A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508875



Internal ID285552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49927492..49938375hg38UCSC Ensembl
chr14:50394210..50405093hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3810884
hg1910884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696684
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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