A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6085148



Internal ID21994381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10215782..10215782hg38UCSC Ensembl
chr12:10368381..10368381hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604654
Samples
Known GenesGABARAPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6085148
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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