A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139186



Internal ID338370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3240107..3240627hg38UCSC Ensembl
chr2:3243878..3244398hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900961
Samples
Known GenesTSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139186
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