A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18101251



Internal ID20668291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19414887..20068289hg38UCSC Ensembl
chr3:19456379..20109781hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38653403
hg19653403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6373753
Supporting Variants
Samples
Known GenesEFHB, KAT2B, KCNH8, PP2D1, RAB5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18101251
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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