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Variant : CV165189 (GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3) Homo sapiens

Symbol: CV165189
Name: GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3
Condition: See cases [RCV000143502]
Clinical Significance: uncertain significance
Last Evaluated: 07/10/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC051619.4   BLOC1S6   C15orf48   DUOX1   DUOX2   DUOXA1   DUOXA2   GATM   MIR147B   SHF   SLC28A2   SLC30A4   SNORA41B   SORD   SPATA5L1   TRH-GTG1-7   TRH-GTG1-8   TRH-GTG1-9  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_45032714)_(45592481_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381545,032,714 - 45,592,481CLINVAR
GRCh371545,324,912 - 45,884,679CLINVAR
Build 361543,112,204 - 43,671,971CLINVAR
Cytogenetic Map1515q21.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491100
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.