A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403178



Internal ID22461048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110780639..110780698hg38UCSC Ensembl
chr2:111538216..111538275hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868535
Supporting Variants
Samples
Known GenesACOXL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403178
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