A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592495



Internal ID16033218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:167077165..167655374hg38UCSC Ensembl
Innerchr3:166794953..167373162hg19UCSC Ensembl
Innerchr3:168277647..168855856hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38578210
hg19578210
hg18578210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv981202
Samples
Known GenesSERPINI2, WDR49, ZBBX
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592495
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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