A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502300



Internal ID18453895
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 StatusS
Merged Variantsnsv1050246
Supporting Variants
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)nssv3502300
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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