A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6314



Internal ID15204525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:94859706..94893892hg38UCSC Ensembl
Outerchr8:95871934..95906120hg19UCSC Ensembl
Outerchr8:95941110..95975296hg18UCSC Ensembl
Outerchr8:95941110..95975296hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg385254
hg195254
hg185254
hg175254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8528
SamplesNA12156
Known GenesCCNE2, INTS8
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)nsv6314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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