A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113042



Internal ID21296308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42378718..42382315hg38UCSC Ensembl
Innerchr1:42844389..42847986hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383598
hg193598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14086831
Samplessample208
Known GenesRIMKLA
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113042
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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