A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020141



Internal ID18762677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134541075..134579534hg38UCSC Ensembl
Innerchr7:134225827..134264286hg19UCSC Ensembl
Innerchr7:133876367..133914826hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3838460
hg1938460
hg1838460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3664224
Samples
Known GenesAKR1B10, AKR1B15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020141
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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