A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460763



Internal ID15520828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:94665488..94877228hg38UCSC Ensembl
Innerchr3:94384332..94596072hg19UCSC Ensembl
Innerchr3:95867022..96078762hg18UCSC Ensembl
Innerchr3:95867022..96078762hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38211741
hg19211741
hg18211741
hg17211741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537274
Samples1780862081_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)nsv460763
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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