A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040643



Internal ID94804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112398043..112398364hg38UCSC Ensembl
chr10:114157801..114158122hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511725
Supporting Variants
Samples
Known GenesACSL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040643
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.882922


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