A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459302



Internal ID15519367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44891349..44907920hg38UCSC Ensembl
Innerchr21:46311264..46327835hg19UCSC Ensembl
Innerchr21:45135692..45152263hg18UCSC Ensembl
Innerchr21:45135692..45152263hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816572
hg1916572
hg1816572
hg1716572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536078
SamplesNINDS_98
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)nsv459302
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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