A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289



Internal ID15540501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118877401..118903068hg38UCSC Ensembl
Outerchr2:119634977..119660644hg19UCSC Ensembl
Outerchr2:119351447..119377114hg18UCSC Ensembl
Outerchr2:119351207..119376874hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3825668
hg1925668
hg1825668
hg1725668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2892
Supporting Variants
SamplesNA18555
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)nssv2289
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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