A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473078



Internal ID250775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72920910..72920996hg38UCSC Ensembl
chr6:73630633..73630719hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984574
Samples
Known GenesKCNQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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