A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965762



Internal ID44497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60529201..60534531hg38UCSC Ensembl
chr5:59825028..59830358hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg385331
hg195331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469874
Supporting Variants
Samples
Known GenesPART1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965762
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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