A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175408



Internal ID15526987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2142107hg38UCSC Ensembl
Innerchr12:2245636..2251273hg19UCSC Ensembl
Innerchr12:2115897..2121534hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385638
hg195638
hg185638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557046
Supporting Variants
SamplesHGDP00292
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175408
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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