A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590378



Internal ID16377787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58491815..58492569hg38UCSC Ensembl
Innerchr3:58477542..58478296hg19UCSC Ensembl
Innerchr3:58452582..58453336hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38755
hg19755
hg18755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8339n54
Supporting Variantsnssv963378, nssv963380, nssv963379
Samples
Known GenesKCTD6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590378
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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