A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5831608



Internal ID22606543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143298380..143300633hg38UCSC Ensembl
chr2:144055949..144058202hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg382254
hg192254
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17487727
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5831608
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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