A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5103



Internal ID15544155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72862591..72894410hg38UCSC Ensembl
Outerchr8:73774826..73806645hg19UCSC Ensembl
Outerchr8:73937380..73969199hg18UCSC Ensembl
Outerchr8:73937380..73969199hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3831820
hg1931820
hg1831820
hg1731820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6255
Supporting Variants
SamplesNA19129
Known GenesKCNB2
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)nssv5103
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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