A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524967



Internal ID15105574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47725779..47821397hg38UCSC Ensembl
Innerchr12:48119562..48215180hg19UCSC Ensembl
Innerchr12:46405829..46501447hg18UCSC Ensembl
Innerchr12:46405829..46501447hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3895619
hg1995619
hg1895619
hg1795619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv94n21
Supporting Variantsnssv700992
Samples
Known GenesHDAC7, RAPGEF3, SLC48A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524967
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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