A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497816



Internal ID274839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:40725450..40990839hg38UCSC Ensembl
chr14:41194655..41460044hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38265390
hg19265390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696628
Samples
Known GenesLOC644919
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497816
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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