A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919302



Internal ID13647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134045614..134063052hg38UCSC Ensembl
chr2:134803185..134820623hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3817439
hg1917439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434835
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919302
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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