A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3268



Internal ID15547860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4629672..4637421hg38UCSC Ensembl
Outerchr20:4610318..4618067hg19UCSC Ensembl
Outerchr20:4558318..4566067hg18UCSC Ensembl
Outerchr20:4558318..4566067hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg387750
hg197750
hg187750
hg177750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7645
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)nsv3268
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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