A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517942



Internal ID294343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23533220..23535881hg38UCSC Ensembl
chr18:21113184..21115845hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382662
hg192662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716655
Samples
Known GenesNPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517942
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer