A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918977



Internal ID13420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143300468..143312839hg38UCSC Ensembl
chr2:144058037..144070408hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3812372
hg1912372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436978
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918977
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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