A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047124



Internal ID18789655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2160422hg38UCSC Ensembl
Innerchr12:2245850..2269588hg19UCSC Ensembl
Innerchr12:2116111..2139849hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3823739
hg1923739
hg1823739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1342n100
Supporting Variantsnssv3516897
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047124
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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