A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048648



Internal ID18791179
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 StatusM
Merged Variantsdgv1403n100
Supporting Variantsnssv3510400, nssv3519669
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)nsv1048648
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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