A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401679



Internal ID181055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43632554..43632605hg38UCSC Ensembl
chr5:43632656..43632707hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965351
Samples
Known GenesNNT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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