A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050246



Internal ID18792777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4885236..5169355hg38UCSC Ensembl
Innerchr10:4927428..5211318hg19UCSC Ensembl
Innerchr10:4917428..5201318hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38284120
hg19283891
hg18283891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502300, nssv3487699
Samples
Known GenesAKR1C1, AKR1C2, AKR1C3, AKR1C6P, AKR1CL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050246
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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