A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6357476



Internal ID21015029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100305678..100378133hg38UCSC Ensembl
chr3:100024522..100096977hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3872456
hg1972456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208853
Samples
Known GenesNIT2, TBC1D23, TOMM70A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6357476
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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