A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394224



Internal ID173658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55293297..55293348hg38UCSC Ensembl
chr6:55158095..55158146hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985971
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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