A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520548



Internal ID15101155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13325015..13328316hg38UCSC Ensembl
Innerchr19:13435829..13439130hg19UCSC Ensembl
Innerchr19:13296829..13300130hg18UCSC Ensembl
Innerchr19:13296829..13300130hg17UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg383302
hg193302
hg183302
hg173302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672550, nssv682599, nssv672418
Samples
Known GenesCACNA1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520548
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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