A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515735



Internal ID6015291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21010048..21420712hg19UCSC Ensembl
Innerchr12:20901315..21311979hg18UCSC Ensembl
Innerchr12:20901315..21311979hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv690340, nssv686379, nssv701692, nssv655605, nssv661924, nssv664627, nssv702776, nssv657684
Samples
Known GenesSLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv515735
Frequency
Sample Size2026
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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