A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555305



Internal ID328465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172112116..172112167hg38UCSC Ensembl
chr5:171539120..171539171hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976709
Samples
Known GenesSTK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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