A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471371



Internal ID249107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:783364..816454hg38UCSC Ensembl
chr7:823001..856091hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3833091
hg1933091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992124
Samples
Known GenesHEATR2, SUN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471371
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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