A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6297



Internal ID15551192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:90402309..90422339hg38UCSC Ensembl
Outerchr8:91414537..91434567hg19UCSC Ensembl
Outerchr8:91483713..91503743hg18UCSC Ensembl
Outerchr8:91483713..91503743hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg388290
hg198290
hg188290
hg178290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10635
SamplesNA18956
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)nsv6297
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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