A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6814



Internal ID15190364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6874902..6883625hg38UCSC Ensembl
Outerchr2:7015033..7023756hg19UCSC Ensembl
Outerchr2:6932484..6941207hg18UCSC Ensembl
Outerchr2:6965631..6974354hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg387091
hg197091
hg187091
hg177091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2596
Supporting Variants
SamplesNA12156
Known GenesRSAD2
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)nssv6814
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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