A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6038



Internal ID15537826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:167309834..167342488hg38UCSC Ensembl
Outerchr5:166736839..166769493hg19UCSC Ensembl
Outerchr5:166669417..166702071hg18UCSC Ensembl
Outerchr5:166669417..166702071hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg386765
hg196765
hg186765
hg176765
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5114
Supporting Variants
SamplesNA12156
Known GenesTENM2
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)nssv6038
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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