A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699395



Internal ID123061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77828822..77830733hg38UCSC Ensembl
chr14:78295165..78297076hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381912
hg191912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504940
Supporting Variants
Samples
Known GenesADCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699395
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.028879


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