A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398174



Internal ID177573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96232262..96232313hg38UCSC Ensembl
chr8:97244490..97244541hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016100
Samples
Known GenesUQCRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398174
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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