A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048378



Internal ID100122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74181284..74182526hg38UCSC Ensembl
chr11:73892329..73893571hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501333
Supporting Variants
Samples
Known GenesPPME1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048378
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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