A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500773



Internal ID277699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45204677..45204756hg38UCSC Ensembl
chr14:45673880..45673959hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695173
Samples
Known GenesMIS18BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500773
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer