A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146551



Internal ID345756
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 StatusM
Merged Variants
Supporting Variantsnssv17730956
Samples
Known GenesISM1, ISM1-AS1, SPTLC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146551
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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