A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538462



Internal ID15503365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:92688925..92733701hg38UCSC Ensembl
Innerchr5:92024632..92069408hg19UCSC Ensembl
Innerchr5:92050388..92095164hg18UCSC Ensembl
Innerchr5:92050388..92095164hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3844777
hg1944777
hg1844777
hg1744777
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462251
Supporting Variants
Samples1780862207_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)nssv538462
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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