A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6406122



Internal ID21063675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69295976..69348457hg38UCSC Ensembl
chr5:68591803..68644284hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3852482
hg1952482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214878
Samples
Known GenesCCDC125
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6406122
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