A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535892



Internal ID15506115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61639511..61713822hg38UCSC Ensembl
Innerchr20:60214567..60288878hg19UCSC Ensembl
Innerchr20:59647962..59722273hg18UCSC Ensembl
Innerchr20:59647962..59722273hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3874312
hg1974312
hg1874312
hg1774312
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459051
Supporting Variants
SamplesHGDP00388
Known GenesCDH4
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv535892
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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