A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970281



Internal ID22745216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54985968..54985968hg38UCSC Ensembl
chr12:55379752..55379752hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356609
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970281
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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