A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175406



Internal ID15534086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2140902hg38UCSC Ensembl
Innerchr12:2245636..2250068hg19UCSC Ensembl
Innerchr12:2115897..2120329hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384433
hg194433
hg184433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557045
Supporting Variants
SamplesNINDS_271
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175406
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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