A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502770



Internal ID18454365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20999544..21267778hg38UCSC Ensembl
Innerchr12:21152478..21420712hg19UCSC Ensembl
Innerchr12:21043745..21311979hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38268235
hg19268235
hg18268235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050396
Supporting Variants
Samples
Known GenesSLCO1A2, SLCO1B1, SLCO1B7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3502770
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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