A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520631



Internal ID296952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49799627..49799694hg38UCSC Ensembl
chr18:47325997..47326064hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718085
Samples
Known GenesACAA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520631
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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