A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215513



Internal ID20782553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125938701..126200701hg38UCSC Ensembl
chr6:126259847..126521847hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38262001
hg19262001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6604976
Supporting Variants
Samples
Known GenesHINT3, MIR5695, TRMT11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215513
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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