A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214078



Internal ID20781118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56948840..57151719hg38UCSC Ensembl
chr5:56244667..56447546hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38202880
hg19202880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397314
Supporting Variants
Samples
Known GenesMIER3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214078
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer