A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520697



Internal ID15447990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:51749599..51855992hg38UCSC Ensembl
Innerchr18:49275969..49382362hg19UCSC Ensembl
Innerchr18:47529967..47636360hg18UCSC Ensembl
Innerchr18:47529967..47636360hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38106394
hg19106394
hg18106394
hg17106394
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674234, nssv682957, nssv699016
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520697
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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