A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402561



Internal ID181930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82409000..82409051hg38UCSC Ensembl
chr5:81704819..81704870hg19UCSC Ensembl
Cytoband5q14.2
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 Variantsnssv16967538
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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