A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2960



Internal ID15547523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146082018..146133465hg38UCSC Ensembl
Outerchr2:146839586..146891033hg19UCSC Ensembl
Outerchr2:146556056..146607503hg18UCSC Ensembl
Outerchr2:146673318..146724765hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3851448
hg1951448
hg1851448
hg1751448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4467, nssv9354, nssv6878, nssv10242, nssv2296, nssv11022
SamplesNA12156, NA12878, NA18956, NA15510, NA18555, NA18517
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)nsv2960
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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