A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423742



Internal ID202754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77109469..77113857hg38UCSC Ensembl
chr1:77575154..77579542hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384389
hg194389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904721
Samples
Known GenesPIGK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423742
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