A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5816



Internal ID15543583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:128358315..128383613hg38UCSC Ensembl
Outerchr2:129115889..129141187hg19UCSC Ensembl
Outerchr2:128832359..128857657hg18UCSC Ensembl
Outerchr2:128832119..128857417hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386407
hg196407
hg186407
hg176407
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2913
Supporting Variants
SamplesNA19129
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)nssv5816
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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