A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557977



Internal ID331054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135371923..135371974hg38UCSC Ensembl
chr5:134707613..134707664hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976025
Samples
Known GenesH2AFY
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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