A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557064



Internal ID15997787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2138013..2148750hg38UCSC Ensembl
Innerchr12:2247179..2257916hg19UCSC Ensembl
Innerchr12:2117440..2128177hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810738
hg1910738
hg1810738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2287n54
Supporting Variantsnssv786670, nssv786673, nssv786669, nssv786672, nssv786671
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557064
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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