A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6919



Internal ID15536944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1169410..1201872hg38UCSC Ensembl
Outerchr20:1150054..1182516hg19UCSC Ensembl
Outerchr20:1098054..1130516hg18UCSC Ensembl
Outerchr20:1098054..1130516hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386974
hg196974
hg186974
hg176974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3251
Supporting Variants
SamplesNA12156
Known GenesTMEM74B
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)nssv6919
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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