A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696869



Internal ID120535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34834947..34837581hg38UCSC Ensembl
chr14:35304153..35306787hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg382635
hg192635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143044
Supporting Variants
Samples
Known GenesBAZ1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696869
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006246


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