A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536582



Internal ID15157073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161203306..161389321hg38UCSC Ensembl
Innerchr2:162059817..162245832hg19UCSC Ensembl
Innerchr2:161768063..161954078hg18UCSC Ensembl
Innerchr2:161885324..162071339hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38186016
hg19186016
hg18186016
hg17186016
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459934
Supporting Variants
Samples1780862414_A
Known GenesPSMD14, TANK
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)nssv536582
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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