A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv307



Internal ID15545000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68678445..68709044hg38UCSC Ensembl
Outerchr3:68727596..68758195hg19UCSC Ensembl
Outerchr3:68810286..68840885hg18UCSC Ensembl
Outerchr3:68810286..68840885hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3830600
hg1930600
hg1830600
hg1730600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3863
Supporting Variants
SamplesNA19240
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)nssv307
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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