A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997430



Internal ID18810280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54387230..54663122hg38UCSC Ensembl
Innerchr4:55253397..55529288hg19UCSC Ensembl
Innerchr4:54948154..55224045hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38275893
hg19275892
hg18275892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625269
Samples
Known GenesKIT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997430
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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