A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542613



Internal ID317015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144781729..144781765hg38UCSC Ensembl
chr8:146007114..146007150hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018474
Samples
Known GenesZNF34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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