A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6375588



Internal ID21033141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40870518..40940611hg38UCSC Ensembl
chr5:40870620..40940713hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3870094
hg1970094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213486
Samples
Known GenesC7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6375588
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