A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460330



Internal ID238319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122388823..122388908hg38UCSC Ensembl
chr5:121724518..121724603hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973392
Samples
Known GenesSNCAIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460330
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