A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968225



Internal ID22743161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76862979..76862979hg38UCSC Ensembl
chr12:77256759..77256759hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356730
Samples
Known GenesCSRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968225
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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