A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919681



Internal ID13908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134981947..134982390hg38UCSC Ensembl
chr2:135739517..135739960hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450480
Supporting Variants
Samples
Known GenesMAP3K19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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