A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536758



Internal ID15504113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239705056..239748351hg38UCSC Ensembl
Innerchr2:240626750..240670045hg19UCSC Ensembl
Innerchr2:240291687..240334982hg18UCSC Ensembl
Innerchr2:240363004..240406299hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3843296
hg1943296
hg1843296
hg1743296
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460151
Supporting Variants
Samples1780862573_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)nssv536758
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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