A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590375



Internal ID16377784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58491655..58492457hg38UCSC Ensembl
Innerchr3:58477382..58478184hg19UCSC Ensembl
Innerchr3:58452422..58453224hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38803
hg19803
hg18803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8339n54
Supporting Variantsnssv963374
Samples
Known GenesKCTD6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590375
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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