A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482305



Internal ID259763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72944584..72950889hg38UCSC Ensembl
chr7:72415123..72421428hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386306
hg196306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998065
Samples
Known GenesNSUN5P2, POM121
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482305
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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