A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467430



Internal ID22525321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116567676..116570083hg38UCSC Ensembl
chr12:117005481..117007888hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382408
hg192408
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5856933
Supporting Variants
Samples
Known GenesMAP1LC3B2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467430
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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