A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468207



Internal ID246009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129999282..130001229hg38UCSC Ensembl
chr6:130320427..130322374hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969422
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468207
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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