A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057789



Internal ID106382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56784620..56790493hg38UCSC Ensembl
chr12:57178404..57184277hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385874
hg195874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508207
Supporting Variants
Samples
Known GenesHSD17B6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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