A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179478



Internal ID20746518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113765993..113821575hg38UCSC Ensembl
chr13:114468966..114524548hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3855583
hg1955583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481485
Supporting Variants
Samples
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179478
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