A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419793



Internal ID198916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73074381..73074381hg38UCSC Ensembl
chr13:73648519..73648519hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693145
Samples
Known GenesKLF5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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