A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328



Internal ID15551226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:99151302..99183512hg38UCSC Ensembl
Outerchr8:100163530..100195740hg19UCSC Ensembl
Outerchr8:100232706..100264916hg18UCSC Ensembl
Outerchr8:100232706..100264916hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg387226
hg197226
hg187226
hg177226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6246
SamplesNA12156
Known GenesVPS13B
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)nsv6328
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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