A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536756



Internal ID15503342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239684069..239741119hg38UCSC Ensembl
Innerchr2:240605763..240662813hg19UCSC Ensembl
Innerchr2:240270700..240327750hg18UCSC Ensembl
Innerchr2:240342017..240399067hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3857051
hg1957051
hg1857051
hg1757051
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460149
Supporting Variants
Samples1780862197_A
Known Genes
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)nssv536756
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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