A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848921



Internal ID22032564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62653751..62653751hg38UCSC Ensembl
chr17:60731112..60731112hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250941
Supporting Variants
Samples
Known GenesMRC2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848921
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