A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523945



Internal ID15104552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142214807..142500700hg38UCSC Ensembl
Innerchr3:141933649..142219542hg19UCSC Ensembl
Innerchr3:143416339..143702232hg18UCSC Ensembl
Innerchr3:143416347..143702240hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38285894
hg19285894
hg18285894
hg17285894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699792
Samples
Known GenesATR, GK5, XRN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523945
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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