A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3519669



Internal ID18471264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20854798..21257155hg38UCSC Ensembl
Innerchr12:21007732..21410089hg19UCSC Ensembl
Innerchr12:20898999..21301356hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38402358
hg19402358
hg18402358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048648
Supporting Variants
Samples
Known GenesSLCO1B1, SLCO1B3, SLCO1B7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3519669
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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