A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139609



Internal ID338797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182126646..183269093hg38UCSC Ensembl
chr2:182991373..184133821hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381142448
hg191142449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922444
Samples
Known GenesDNAJC10, DUSP19, FRZB, NCKAP1, NUP35, PDE1A, PPP1R1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139609
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