A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18093191



Internal ID20660231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128728241..128732092hg38UCSC Ensembl
chr3:128447084..128450935hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg383852
hg193852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6358237
Supporting Variants
Samples
Known GenesRAB7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18093191
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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