A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400508



Internal ID21058061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146063286..146066225hg38UCSC Ensembl
chr5:145442849..145445788hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382940
hg192940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213259
Samples
Known GenesSH3RF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6400508
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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