A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518123



Internal ID294520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:28480549..29115795hg38UCSC Ensembl
chr19:28971456..29606702hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38635247
hg19635247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722593
Samples
Known GenesLINC00906, LOC100505835
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518123
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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