A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429793



Internal ID208628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70949079..71001278hg38UCSC Ensembl
chr1:71414762..71466961hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3852200
hg1952200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n206
Supporting Variantsnssv16907255
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429793
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