A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536958



Internal ID15511054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:5754531..6220792hg38UCSC Ensembl
Innerchr3:5796218..6262479hg19UCSC Ensembl
Innerchr3:5771218..6237479hg18UCSC Ensembl
Innerchr3:5771218..6237479hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38466262
hg19466262
hg18466262
hg17466262
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460367
Supporting Variants
SamplesHGDP01347
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)nssv536958
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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