A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004662



Internal ID18747193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119304824..119612175hg38UCSC Ensembl
Innerchr1:119847447..120154798hg19UCSC Ensembl
Innerchr1:119648970..119956321hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38307352
hg19307352
hg18307352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488645
Samples
Known GenesHAO2, HSD3B1, HSD3B2, HSD3BP4, LINC00622
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004662
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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