A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528011



Internal ID15108618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95265470..95391263hg38UCSC Ensembl
Innerchr2:95931218..96057011hg19UCSC Ensembl
Innerchr2:95294945..95420738hg18UCSC Ensembl
Innerchr2:95353092..95478885hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38125794
hg19125794
hg18125794
hg17125794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704539
Samples
Known GenesKCNIP3, PROM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528011
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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