A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534539



Internal ID15511887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46409942..46433613hg38UCSC Ensembl
Innerchr2:46637081..46660752hg19UCSC Ensembl
Innerchr2:46490585..46514256hg18UCSC Ensembl
Innerchr2:46548732..46572403hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3823672
hg1923672
hg1823672
hg1723672
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457330
Supporting Variants
SamplesNINDS_163
Known GenesLOC101805491
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)nssv534539
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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