A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517120



Internal ID293550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:34998582..35001841hg38UCSC Ensembl
chr19:35489486..35492745hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg383260
hg193260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722985
Samples
Known GenesGRAMD1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517120
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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