A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215570



Internal ID20782610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131804701..131810100hg38UCSC Ensembl
chr6:132125841..132131240hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606911
Supporting Variants
Samples
Known GenesENPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215570
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