A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216154



Internal ID20783194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17382414..17865884hg38UCSC Ensembl
chr6:17382645..17866115hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38483471
hg19483471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415173
Supporting Variants
Samples
Known GenesCAP2, FAM8A1, KIF13A, NUP153
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216154
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