A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481265



Internal ID258753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81712199..81714524hg38UCSC Ensembl
chr7:81341515..81343840hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg382326
hg192326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001931
Samples
Known GenesHGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481265
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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