A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684832



Internal ID108498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119040701..119061568hg38UCSC Ensembl
chr12:119478506..119499373hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3820868
hg1920868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498207
Supporting Variants
Samples
Known GenesSRRM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684832
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