A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557015



Internal ID15997738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2105526..2107029hg38UCSC Ensembl
Innerchr12:2214692..2216195hg19UCSC Ensembl
Innerchr12:2084953..2086456hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381504
hg191504
hg181504
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786403, nssv786404
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557015
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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