A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911664



Internal ID8543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43245230..43248247hg38UCSC Ensembl
chr2:43472369..43475386hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383018
hg193018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442339
Supporting Variants
Samples
Known GenesTHADA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911664
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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