A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533039



Internal ID308937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48014630..48014777hg38UCSC Ensembl
chr19:48517887..48518034hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723828
Samples
Known GenesELSPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533039
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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