A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908523



Internal ID6473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:98990629..98990881hg38UCSC Ensembl
chr1:99456185..99456437hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420051
Supporting Variants
Samples
Known GenesLPPR5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908523
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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