A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508754



Internal ID285437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24435710..24435874hg38UCSC Ensembl
chr14:24904916..24905080hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693441
Samples
Known GenesKHNYN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508754
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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