A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903451



Internal ID3109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59131753..59132017hg38UCSC Ensembl
chr1:59597425..59597689hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418390
Supporting Variants
Samples
Known GenesHSD52
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903451
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001873


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