A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520278



Internal ID15447571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179976255..180123931hg38UCSC Ensembl
Innerchr1:179945390..180093066hg19UCSC Ensembl
Innerchr1:178212013..178359689hg18UCSC Ensembl
Innerchr1:176677047..176824723hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38147677
hg19147677
hg18147677
hg17147677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697322
Samples
Known GenesCEP350
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520278
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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