A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10262



Internal ID15542536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:203632564..203664386hg38UCSC Ensembl
Outerchr2:204497287..204529109hg19UCSC Ensembl
Outerchr2:204205532..204237354hg18UCSC Ensembl
Outerchr2:204322793..204354615hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387685
hg197685
hg187685
hg177685
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3119
Supporting Variants
SamplesNA18956
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)nssv10262
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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