A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5101



Internal ID15544157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:71569777..71602178hg38UCSC Ensembl
Outerchr8:72482012..72514413hg19UCSC Ensembl
Outerchr8:72644566..72676967hg18UCSC Ensembl
Outerchr8:72644566..72676967hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386830
hg196830
hg186830
hg176830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251
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)nssv5101
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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