A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020759



Internal ID18763293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:133928362..134443062hg38UCSC Ensembl
Innerchr7:133613115..134127814hg19UCSC Ensembl
Innerchr7:133263655..133778354hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38514701
hg19514700
hg18514700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3751549
Samples
Known GenesAKR1B1, EXOC4, LRGUK, SLC35B4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020759
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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