A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934833



Internal ID23951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57415976..57418470hg38UCSC Ensembl
chr3:57401703..57404197hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382495
hg192495
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558225
Supporting Variants
Samples
Known GenesDNAH12
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934833
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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