A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6380224



Internal ID21037777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38400701..38409500hg38UCSC Ensembl
chr5:38400803..38409602hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18130728
Samples
Known GenesEGFLAM, EGFLAM-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6380224
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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