A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999314



Internal ID19158850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119556096..119613842hg38UCSC Ensembl
Innerchr1:120098719..120156465hg19UCSC Ensembl
Innerchr1:119900242..119957988hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3857747
hg1957747
hg1857747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500074
Samples
Known GenesHSD3BP4, LINC00622
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999314
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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