A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503644



Internal ID280466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55989906..55995713hg38UCSC Ensembl
chr14:56456624..56462431hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg385808
hg195808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696374
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503644
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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