A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535806



Internal ID15155252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23750775..23827687hg38UCSC Ensembl
Innerchr20:23731412..23808324hg19UCSC Ensembl
Innerchr20:23679412..23756324hg18UCSC Ensembl
Innerchr20:23679412..23756324hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3876913
hg1976913
hg1876913
hg1776913
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458953
Supporting Variants
Samples1780854017_A
Known GenesCST1, CST2
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)nssv535806
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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