A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517980



Internal ID15445273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:334742..338132hg38UCSC Ensembl
Innerchr18:334742..338132hg19UCSC Ensembl
Innerchr18:324742..328132hg18UCSC Ensembl
Innerchr18:324742..328132hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383391
hg193391
hg183391
hg173391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695392
Samples
Known GenesCOLEC12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517980
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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