A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974554



Internal ID50410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137752190..137752199hg38UCSC Ensembl
chr5:137087879..137087888hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559497
Supporting Variants
Samples
Known GenesHNRNPA0
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974554
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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