A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557003



Internal ID15997726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2052733..2054141hg38UCSC Ensembl
Innerchr12:2161899..2163307hg19UCSC Ensembl
Innerchr12:2032160..2033568hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786388, nssv786389
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557003
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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