A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518045



Internal ID294442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57639616..57643568hg38UCSC Ensembl
chr19:58150984..58154936hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg383953
hg193953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724358
Samples
Known GenesZNF211
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518045
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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