A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3517873



Internal ID18469468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1840873..1874616hg38UCSC Ensembl
Innerchr12:1950039..1983782hg19UCSC Ensembl
Innerchr12:1820300..1854043hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833744
hg1933744
hg1833744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036795
Supporting Variants
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3517873
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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