A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6402076



Internal ID21059629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123347696..123348236hg38UCSC Ensembl
chr5:122683390..122683930hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18123877
Samples
Known GenesCEP120
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6402076
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