A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727152



Internal ID150818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44655347..44685614hg38UCSC Ensembl
chr21:46075264..46105529hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3830268
hg1930266
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558457
Supporting Variants
Samples
Known GenesKRTAP12-1, KRTAP12-2, KRTAP12-3, TSPEAR
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727152
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.017484


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