A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557002



Internal ID15997725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2052504..2054835hg38UCSC Ensembl
Innerchr12:2161670..2164001hg19UCSC Ensembl
Innerchr12:2031931..2034262hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382332
hg192332
hg182332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2274n54
Supporting Variantsnssv786387
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557002
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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