A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535802



Internal ID15510626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23446011..23588763hg38UCSC Ensembl
Innerchr20:23426648..23569400hg19UCSC Ensembl
Innerchr20:23374648..23517400hg18UCSC Ensembl
Innerchr20:23374648..23517400hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38142753
hg19142753
hg18142753
hg17142753
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458949
Supporting Variants
SamplesHGDP01273
Known GenesCST11, CST13P, CST8, CST9L
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)nssv535802
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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