A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535917



Internal ID15508792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63540916..63591039hg38UCSC Ensembl
Innerchr20:62172269..62222392hg19UCSC Ensembl
Innerchr20:61642713..61692836hg18UCSC Ensembl
Innerchr20:61642713..61692836hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3850124
hg1950124
hg1850124
hg1750124
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459083
Supporting Variants
SamplesHGDP00899
Known GenesC20orf195, GMEB2, HELZ2, 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)nssv535917
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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