A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138891



Internal ID338075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28501000..28509163hg38UCSC Ensembl
chr1:28827512..28835675hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg388164
hg198164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900319
Samples
Known GenesRCC1, SNHG3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138891
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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