A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536956



Internal ID15505234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:5366617..5496330hg38UCSC Ensembl
Innerchr3:5408302..5538017hg19UCSC Ensembl
Innerchr3:5383302..5513017hg18UCSC Ensembl
Innerchr3:5383302..5513017hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38129714
hg19129716
hg18129716
hg17129716
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460364
Supporting Variants
SamplesHGDP00080
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)nssv536956
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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