A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716655



Internal ID140321
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 StatusS
Merged Variantsnsv5517942
Supporting Variants
Samples
Known GenesNPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716655
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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