A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468446



Internal ID246244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79085471..79214395hg38UCSC Ensembl
chr6:79795188..79924112hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38128925
hg19128925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987389
Samples
Known GenesHMGN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468446
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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