A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467651



Internal ID245461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42165839..42167667hg38UCSC Ensembl
chr5:42165941..42167769hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381829
hg191829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966478
Samples
Known GenesLOC101926960
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467651
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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