A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521397



Internal ID15102004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121252053..121473503hg38UCSC Ensembl
Innerchr3:120970900..121192350hg19UCSC Ensembl
Innerchr3:122453590..122675040hg18UCSC Ensembl
Innerchr3:122453590..122675040hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38221451
hg19221451
hg18221451
hg17221451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698008
Samples
Known GenesPOLQ, STXBP5L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521397
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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