A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032085



Internal ID18774619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103349959..103866117hg38UCSC Ensembl
Innerchr8:104362187..104878345hg19UCSC Ensembl
Innerchr8:104431363..104947521hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38516159
hg19516159
hg18516159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7279n100
Supporting Variantsnssv3691261
Samples
Known GenesCTHRC1, DCAF13, RIMS2, SLC25A32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032085
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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