A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6393535



Internal ID21051088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94319885..94576968hg38UCSC Ensembl
chr4:95241036..95498119hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38257084
hg19257084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215392
Samples
Known GenesHPGDS, PDLIM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6393535
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