A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523249



Internal ID15450542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193819770..193842147hg38UCSC Ensembl
Innerchr3:193537559..193559936hg19UCSC Ensembl
Innerchr3:195020253..195042630hg18UCSC Ensembl
Innerchr3:195020261..195042638hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3822378
hg1922378
hg1822378
hg1722378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698978
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523249
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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