A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044200



Internal ID19133419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21204881..21257155hg38UCSC Ensembl
Innerchr12:21357815..21410089hg19UCSC Ensembl
Innerchr12:21249082..21301356hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3852275
hg1952275
hg1852275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3513974
Samples
Known GenesSLCO1B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044200
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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