A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537027



Internal ID15509550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:20438761..20563810hg38UCSC Ensembl
Innerchr3:20480253..20605302hg19UCSC Ensembl
Innerchr3:20455257..20580306hg18UCSC Ensembl
Innerchr3:20455257..20580306hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38125050
hg19125050
hg18125050
hg17125050
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460459
Supporting Variants
SamplesHGDP01031
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)nssv537027
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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