A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6130



Internal ID15204323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26559806..26594826hg38UCSC Ensembl
Outerchr8:26417322..26452342hg19UCSC Ensembl
Outerchr8:26473239..26508259hg18UCSC Ensembl
Outerchr8:26473239..26508259hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg387257
hg197257
hg187257
hg177257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2784, nssv6211
SamplesNA12156, NA18555
Known GenesDPYSL2
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)nsv6130
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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