A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6291



Internal ID15204500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:87754919..87790728hg38UCSC Ensembl
Outerchr8:88767147..88802956hg19UCSC Ensembl
Outerchr8:88836263..88872072hg18UCSC Ensembl
Outerchr8:88836263..88872072hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3835810
hg1935810
hg1835810
hg1735810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8521
SamplesNA12156
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)nsv6291
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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