A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6313



Internal ID15551210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:94412057..94445643hg38UCSC Ensembl
Outerchr8:95424285..95457871hg19UCSC Ensembl
Outerchr8:95493461..95527047hg18UCSC Ensembl
Outerchr8:95493461..95527047hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg385698
hg195698
hg185698
hg175698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5117
SamplesNA19129
Known GenesFSBP, RAD54B
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)nsv6313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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