A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525694



Internal ID15106301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79395184..79961125hg38UCSC Ensembl
Innerchr18:77155184..77721125hg19UCSC Ensembl
Innerchr18:75256172..75822113hg18UCSC Ensembl
Innerchr18:75256172..75822113hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38565942
hg19565942
hg18565942
hg17565942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701853
Samples
Known GenesCTDP1, KCNG2, NFATC1, PQLC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525694
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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