A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112410



Internal ID21458593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239141604..239141604hg38UCSC Ensembl
chr2:240063300..240063300hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619515
Supporting Variants
SamplesHG02587
Known GenesHDAC4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112410
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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