A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318



Internal ID15540820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231809085..231837876hg38UCSC Ensembl
Outerchr2:232673795..232702586hg19UCSC Ensembl
Outerchr2:232382039..232410830hg18UCSC Ensembl
Outerchr2:232499300..232528091hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811225
hg1911225
hg1811225
hg1711225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205
Supporting Variants
SamplesNA18555
Known GenesCOPS7B
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)nssv2318
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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