A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467994



Internal ID245801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126848790..126854395hg38UCSC Ensembl
chr6:127169935..127175540hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385606
hg195606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969688
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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