A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7540



Internal ID15189638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112882915..112916265hg38UCSC Ensembl
Outerchr2:113640492..113673842hg19UCSC Ensembl
Outerchr2:113356963..113390313hg18UCSC Ensembl
Outerchr2:113356723..113390073hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg386078
hg196078
hg186078
hg176078
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2879
Supporting Variants
SamplesNA12156
Known GenesIL37
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)nssv7540
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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