A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504940



Internal ID281732
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 StatusM
Merged Variants
Supporting Variantsnssv17699395
Samples
Known GenesADCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504940
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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