A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562272



Internal ID335230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109970623..109970708hg38UCSC Ensembl
chr8:110982852..110982937hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016744
Samples
Known GenesKCNV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562272
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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