A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535916



Internal ID15512760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63522433..63589896hg38UCSC Ensembl
Innerchr20:62153786..62221249hg19UCSC Ensembl
Innerchr20:61624230..61691693hg18UCSC Ensembl
Innerchr20:61624230..61691693hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3867464
hg1967464
hg1867464
hg1767464
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459081
Supporting Variants
SamplesNINDS_60
Known GenesC20orf195, GMEB2, HELZ2, PTK6, SRMS
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)nssv535916
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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