A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536077



Internal ID15507548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44886246..44902938hg38UCSC Ensembl
Innerchr21:46306161..46322853hg19UCSC Ensembl
Innerchr21:45130589..45147281hg18UCSC Ensembl
Innerchr21:45130589..45147281hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816693
hg1916693
hg1816693
hg1716693
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459301
Supporting Variants
SamplesHGDP00676
Known GenesITGB2
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)nssv536077
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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