A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030422



Internal ID18772953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96386..643041hg38UCSC Ensembl
Innerchr8:46386..593041hg19UCSC Ensembl
Innerchr8:36386..583041hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38546656
hg19546656
hg18546656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757759
Samples
Known GenesFAM87A, FBXO25, OR4F21, RPL23AP53, TDRP, ZNF596
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030422
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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