A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718525



Internal ID142191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58509528..58523528hg38UCSC Ensembl
chr18:56176760..56190760hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525817
Supporting Variants
Samples
Known GenesALPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718525
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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