A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1265



Internal ID15545828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67569577..67593349hg38UCSC Ensembl
Outerchr1:68035260..68059032hg19UCSC Ensembl
Outerchr1:67807848..67831620hg18UCSC Ensembl
Outerchr1:67747281..67771053hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3816121
hg1916121
hg1816121
hg1716121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2160
SamplesNA18555
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv1265
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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