A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2324



Internal ID15540818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1704122..1737118hg38UCSC Ensembl
Outerchr20:1684768..1717764hg19UCSC Ensembl
Outerchr20:1632768..1665764hg18UCSC Ensembl
Outerchr20:1632768..1665764hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg387020
hg197020
hg187020
hg177020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3256
Supporting Variants
SamplesNA18555
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)nssv2324
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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