A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405971



Internal ID185312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110815156..110815200hg38UCSC Ensembl
chr5:110150855..110150899hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973640
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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