A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4768130



Internal ID20543990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130042988..130042988hg38UCSC Ensembl
chr12:130527533..130527533hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281271
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4768130
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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