A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4658



Internal ID15196537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2820663..2851754hg38UCSC Ensembl
Outerchr20:2801309..2832400hg19UCSC Ensembl
Outerchr20:2749309..2780400hg18UCSC Ensembl
Outerchr20:2749309..2780400hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3831092
hg1931092
hg1831092
hg1731092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3261
Supporting Variants
SamplesNA19129
Known GenesPCED1A, VPS16
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)nssv4658
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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