A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920925



Internal ID14730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150863589..152862185hg38UCSC Ensembl
chr2:151720103..153718699hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381998597
hg191998597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444636
Supporting Variants
Samples
Known GenesARL5A, ARL6IP6, CACNB4, FMNL2, MIR4773-1, MIR4773-2, NEB, NMI, PRPF40A, RBM43, RIF1, STAM2, TNFAIP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920925
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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