A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719239



Internal ID142905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70587528..70651528hg38UCSC Ensembl
chr18:68254764..68318764hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3864001
hg1964001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144743
Supporting Variants
Samples
Known GenesGTSCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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