A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007381



Internal ID19096600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119566490..119596669hg38UCSC Ensembl
Innerchr1:120109113..120139292hg19UCSC Ensembl
Innerchr1:119910636..119940815hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3830180
hg1930180
hg1830180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n100
Supporting Variantsnssv3492654
Samples
Known GenesHSD3BP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007381
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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