A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411921



Internal ID191225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65209866..65209875hg38UCSC Ensembl
chr5:64505693..64505702hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968277
Samples
Known GenesADAMTS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411921
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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