A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3476718



Internal ID18720486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70223532..70333382hg38UCSC Ensembl
Innerchr1:70689215..70799065hg19UCSC Ensembl
Innerchr1:70461803..70571653hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38109851
hg19109851
hg18109851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014292
Supporting Variants
Samples
Known GenesANKRD13C, SRSF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3476718
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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