A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522304



Internal ID15449597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85920193..85936561hg38UCSC Ensembl
Innerchr1:86385876..86402244hg19UCSC Ensembl
Innerchr1:86158464..86174832hg18UCSC Ensembl
Innerchr1:86097897..86114265hg17UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3816369
hg1916369
hg1816369
hg1716369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695085
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522304
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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