A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516507



Internal ID15443800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31848581..31915943hg38UCSC Ensembl
Innerchr12:32001515..32068877hg19UCSC Ensembl
Innerchr12:31892782..31960144hg18UCSC Ensembl
Innerchr12:31892782..31960144hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3867363
hg1967363
hg1867363
hg1767363
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv661401, nssv672155, nssv690210, nssv683182, nssv656489, nssv693399, nssv681684, nssv671962, nssv680994, nssv662245, nssv654238, nssv680108, nssv688738, nssv683335, nssv669769, nssv661830, nssv674273, nssv654494, nssv652994, nssv661365, nssv659816, nssv678166, nssv688358, nssv654800, nssv696574, nssv682222, nssv672946, nssv683161, nssv681888, nssv677982, nssv686613, nssv658376, nssv662711, nssv661381, nssv653020, nssv683989
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516507
Frequency
Sample Size2026
Observed Gain23
Observed Loss13
Observed Complex0
Frequencyn/a


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