A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789516



Internal ID15736786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20857114..20861014hg38UCSC Ensembl
Innerchr12:21010048..21013948hg19UCSC Ensembl
Innerchr12:20901315..20905215hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg383901
hg193901
hg183901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557707
Supporting Variants
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789516
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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