A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519947



Internal ID15447240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76310478..76361816hg38UCSC Ensembl
Innerchr2:76537604..76588942hg19UCSC Ensembl
Innerchr2:76391112..76442450hg18UCSC Ensembl
Innerchr2:76449259..76500597hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3851339
hg1951339
hg1851339
hg1751339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659594, nssv677474, nssv696402, nssv687005, nssv661188
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519947
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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