A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3519267



Internal ID18470862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148926hg38UCSC Ensembl
Innerchr12:2245850..2258092hg19UCSC Ensembl
Innerchr12:2116111..2128353hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812243
hg1912243
hg1812243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035722
Supporting Variants
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)nssv3519267
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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