A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397785



Internal ID177189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157023189..157023240hg38UCSC Ensembl
chr6:157344323..157344374hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989791
Samples
Known GenesARID1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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