A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530281



Internal ID306272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13986506..13986670hg38UCSC Ensembl
chr19:14097318..14097482hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721639
Samples
Known GenesRFX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530281
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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