A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524372



Internal ID300580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43894671..43894766hg38UCSC Ensembl
chr19:44398823..44398918hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725208
Samples
Known GenesLOC100505715
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524372
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