A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919300



Internal ID13646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134036309..134047618hg38UCSC Ensembl
chr2:134793880..134805189hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3811310
hg1911310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441314
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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