A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519056



Internal ID295414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12650376..12650674hg38UCSC Ensembl
chr19:12761190..12761488hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721531
Samples
Known GenesMAN2B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519056
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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