A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518356



Internal ID15445649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200822826..200842637hg38UCSC Ensembl
Innerchr1:200791954..200811765hg19UCSC Ensembl
Innerchr1:199058577..199078388hg18UCSC Ensembl
Innerchr1:197523611..197543422hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3819812
hg1919812
hg1819812
hg1719812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695783
Samples
Known GenesCAMSAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518356
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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