A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757480



Internal ID20533340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127634205..127634205hg38UCSC Ensembl
chr12:128118750..128118750hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282907
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757480
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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