A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527288



Internal ID15107895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81170583..81277342hg38UCSC Ensembl
Innerchr16:81204188..81310947hg19UCSC Ensembl
Innerchr16:79761689..79868448hg18UCSC Ensembl
Innerchr16:79761689..79868448hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38106760
hg19106760
hg18106760
hg17106760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703702
Samples
Known GenesBCMO1, PKD1L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527288
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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