A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012683



Internal ID18755215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62122180..62178326hg38UCSC Ensembl
Innerchr1:62587852..62643998hg19UCSC Ensembl
Innerchr1:62360440..62416586hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3856147
hg1956147
hg1856147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3474575
Samples
Known GenesINADL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012683
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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