A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6262



Internal ID15190916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143067176..143082992hg38UCSC Ensembl
Outerchr8:144148593..144164409hg19UCSC Ensembl
Outerchr8:144219968..144235784hg18UCSC Ensembl
Outerchr8:144219968..144235784hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810517
hg1910517
hg1810517
hg1710517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6437
Supporting Variants
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)nssv6262
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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