A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3255



Internal ID15547846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1665878..1699876hg38UCSC Ensembl
Outerchr20:1646524..1680522hg19UCSC Ensembl
Outerchr20:1594524..1628522hg18UCSC Ensembl
Outerchr20:1594524..1628522hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833999
hg1933999
hg1833999
hg1733999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6923
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)nsv3255
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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