A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516362



Internal ID15443655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19210244..19437874hg38UCSC Ensembl
Innerchr12:19363178..19590808hg19UCSC Ensembl
Innerchr12:19254445..19482075hg18UCSC Ensembl
Innerchr12:19254445..19482075hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38227631
hg19227631
hg18227631
hg17227631
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv664802, nssv656916, nssv652831, nssv689796, nssv695181, nssv698280, nssv671767, nssv660012, nssv686416, nssv690561, nssv657038, nssv668242, nssv652010, nssv705663, nssv693870, nssv689035, nssv669090, nssv677444
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516362
Frequency
Sample Size2026
Observed Gain15
Observed Loss3
Observed Complex0
Frequencyn/a


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