A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479641



Internal ID257159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100645010..100645804hg38UCSC Ensembl
chr7:100242633..100243427hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000156
Samples
Known GenesACTL6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479641
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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