A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517406



Internal ID15098013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5043981..5047412hg38UCSC Ensembl
Innerchr12:5153147..5156578hg19UCSC Ensembl
Innerchr12:5023408..5026839hg18UCSC Ensembl
Innerchr12:5023408..5026839hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg383432
hg193432
hg183432
hg173432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683275, nssv662856, nssv666746, nssv692833, nssv691058, nssv684563, nssv692240, nssv652924, nssv657685, nssv654495, nssv693739, nssv664608, nssv689450, nssv667422, nssv685114, nssv651930
Samples
Known GenesKCNA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517406
Frequency
Sample Size2026
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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