A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500657



Internal ID277586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50688188..50718789hg38UCSC Ensembl
chr14:51154906..51185507hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3830602
hg1930602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695221
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500657
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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