A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482629



Internal ID260083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121580445..121585748hg38UCSC Ensembl
chr7:121220499..121225802hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg385304
hg195304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001753
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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