A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054997



Internal ID18797528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20529075..21139668hg38UCSC Ensembl
Innerchr12:20682009..21292602hg19UCSC Ensembl
Innerchr12:20573276..21183869hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38610594
hg19610594
hg18610594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518011
Samples
Known GenesPDE3A, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054997
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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