A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183938



Internal ID20750978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88734841..89141580hg38UCSC Ensembl
chr16:88801249..89207988hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38406740
hg19406740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6501020
Supporting Variants
Samples
Known GenesACSF3, APRT, CBFA2T3, CDT1, GALNS, LOC100289580, PABPN1L, PIEZO1, TRAPPC2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183938
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