A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940375



Internal ID27629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143045574..143086000hg38UCSC Ensembl
chr3:142764416..142804842hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3840427
hg1940427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439955
Supporting Variants
Samples
Known GenesU2SURP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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