A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699033



Internal ID122699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81426285..81429945hg38UCSC Ensembl
chr14:81892629..81896289hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383661
hg193661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499124
Supporting Variants
Samples
Known GenesSTON2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699033
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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