A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536759



Internal ID15503787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239723213..239762101hg38UCSC Ensembl
Innerchr2:240644907..240683795hg19UCSC Ensembl
Innerchr2:240309844..240348732hg18UCSC Ensembl
Innerchr2:240381161..240420049hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3838889
hg1938889
hg1838889
hg1738889
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460152
Supporting Variants
Samples1780862416_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)nssv536759
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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