A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514578



Internal ID291075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57293973..57299092hg38UCSC Ensembl
chr19:57805341..57810460hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg385120
hg195120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724331
Samples
Known GenesZNF460
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514578
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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