A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6945



Internal ID15536918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47923578..47955675hg38UCSC Ensembl
Outerchr20:46552322..46584419hg19UCSC Ensembl
Outerchr20:45985729..46017826hg18UCSC Ensembl
Outerchr20:45985729..46017826hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387340
hg197340
hg187340
hg177340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3401
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)nssv6945
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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