A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403613



Internal ID182973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5470622..5470673hg38UCSC Ensembl
chr5:5470735..5470786hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961756
Samples
Known GenesKIAA0947
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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