A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548160



Internal ID321941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14951713..14951718hg38UCSC Ensembl
chr12:15104647..15104652hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054266
Samples
Known GenesARHGDIB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548160
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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