A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396072



Internal ID22453942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112990056..112991184hg38UCSC Ensembl
chr3:112708903..112710031hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904337
Supporting Variants
Samples
Known GenesGTPBP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396072
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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