A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428158



Internal ID207037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75375961..75376374hg38UCSC Ensembl
chr1:75841646..75842059hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907384
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428158
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