A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730956



Internal ID154622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12758891..13361950hg38UCSC Ensembl
chr20:12739538..13342597hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38603060
hg19603060
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146551
Supporting Variants
Samples
Known GenesISM1, ISM1-AS1, SPTLC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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