A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10215



Internal ID15195897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75443995..75475801hg38UCSC Ensembl
Outerchr2:75671121..75702927hg19UCSC Ensembl
Outerchr2:75524629..75556435hg18UCSC Ensembl
Outerchr2:75582776..75614582hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg387700
hg197700
hg187700
hg177700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2786
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)nssv10215
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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