A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17855585



Internal ID22039228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41046768..41046768hg38UCSC Ensembl
chr5:41046870..41046870hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260236
Supporting Variants
Samples
Known GenesMROH2B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17855585
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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