A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516308



Internal ID292771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11977947..11979592hg38UCSC Ensembl
chr19:12088762..12090407hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381646
hg191646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721463
Samples
Known GenesZNF763
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516308
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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