A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392311



Internal ID22450181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239345395..239345395hg38UCSC Ensembl
chr2:240267090..240267090hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948895
Supporting Variants
Samples
Known GenesHDAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392311
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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