A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013162



Internal ID19102380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119564979..119596987hg38UCSC Ensembl
Innerchr1:120107602..120139610hg19UCSC Ensembl
Innerchr1:119909125..119941133hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832009
hg1932009
hg1832009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n100
Supporting Variantsnssv3496904
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)nsv1013162
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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