A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180689



Internal ID20747729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82709064..82956275hg38UCSC Ensembl
chr17:80666940..80914151hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38247212
hg19247212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532503
Supporting Variants
Samples
Known GenesB3GNTL1, FN3K, FN3KRP, TBCD, ZNF750
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180689
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