A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6175



Internal ID15551058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:46844426..46873409hg38UCSC Ensembl
Outerchr8:47756048..47785031hg19UCSC Ensembl
Outerchr8:47875213..47904196hg18UCSC Ensembl
Outerchr8:47875213..47904196hg17UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3810516
hg1910516
hg1810516
hg1710516
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10618
SamplesNA18956
Known GenesLINC00293
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)nsv6175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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