A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518646



Internal ID295026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56184103..56213922hg38UCSC Ensembl
chr19:56695472..56725291hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3829820
hg1929820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725767
Samples
Known GenesGALP, ZSCAN5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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