A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398700



Internal ID178095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124869637..124869688hg38UCSC Ensembl
chr5:124205330..124205381hg19UCSC Ensembl
Cytoband5q23.2
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 Variantsnssv16972915
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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