A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696205



Internal ID119871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51980096..51983562hg38UCSC Ensembl
chr14:52446814..52450280hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg383467
hg193467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508769
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696205
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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