A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145390



Internal ID344595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77901457..78167179hg38UCSC Ensembl
chr14:78367800..78633522hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38265723
hg19265723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699401
Samples
Known GenesADCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145390
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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