A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260344



Internal ID22064954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56022940..56022940hg38UCSC Ensembl
chr5:55318768..55318768hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858493
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260344
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