A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2261



Internal ID15541665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45145800..45178049hg38UCSC Ensembl
Outerchr2:45372939..45405188hg19UCSC Ensembl
Outerchr2:45226443..45258692hg18UCSC Ensembl
Outerchr2:45284590..45316839hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387771
hg197771
hg187771
hg177771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2712
Supporting Variants
SamplesNA18555
Known GenesLINC01121
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)nssv2261
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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