A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688716



Internal ID112382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66321579..66326305hg38UCSC Ensembl
chr12:66715359..66720085hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384727
hg194727
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555654
Supporting Variants
Samples
Known GenesHELB
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688716
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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