A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1597



Internal ID15198789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34192245..34239306hg38UCSC Ensembl
Outerchr20:32780051..32827112hg19UCSC Ensembl
Outerchr20:32243712..32290773hg18UCSC Ensembl
Outerchr20:32243712..32290773hg17UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3847062
hg1947062
hg1847062
hg1747062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3357
Supporting Variants
SamplesNA19240
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)nssv1597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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