A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330



Internal ID15551229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:101129630..101163153hg38UCSC Ensembl
Outerchr8:102141858..102175381hg19UCSC Ensembl
Outerchr8:102211034..102244557hg18UCSC Ensembl
Outerchr8:102211034..102244557hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg386223
hg196223
hg186223
hg176223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3680
SamplesNA12878
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)nsv6330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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