A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6211



Internal ID15190967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26559806..26591984hg38UCSC Ensembl
Outerchr8:26417322..26449500hg19UCSC Ensembl
Outerchr8:26473239..26505417hg18UCSC Ensembl
Outerchr8:26473239..26505417hg17UCSC 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 StatusS
Merged Variantsnsv6130
Supporting Variants
SamplesNA12156
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)nssv6211
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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