A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396562



Internal ID175978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146643206..146643206hg38UCSC Ensembl
chr6:146964342..146964342hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989627
Samples
Known GenesADGB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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