A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5853



Internal ID15543539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231824843..231843406hg38UCSC Ensembl
Outerchr2:232689553..232708116hg19UCSC Ensembl
Outerchr2:232397797..232416360hg18UCSC Ensembl
Outerchr2:232515058..232533621hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3818564
hg1918564
hg1818564
hg1718564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206
Supporting Variants
SamplesNA19129
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)nssv5853
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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