A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935758



Internal ID22711103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76612250..76612485hg38UCSC Ensembl
chr12:77006030..77006265hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351219
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935758
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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