A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525116



Internal ID301291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57437647..57442111hg38UCSC Ensembl
chr19:57949015..57953479hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg384465
hg194465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724338
Samples
Known GenesZNF749
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525116
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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