A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517435



Internal ID15098042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39184982..39193402hg38UCSC Ensembl
Innerchr17:37341235..37349655hg19UCSC Ensembl
Innerchr17:34594761..34603181hg18UCSC Ensembl
Innerchr17:34594761..34603181hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg388421
hg198421
hg188421
hg178421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673082, nssv652015
Samples
Known GenesCACNB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517435
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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