A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750670



Internal ID20526591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5617369..5617369hg38UCSC Ensembl
chr12:5726535..5726535hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279101
Samples
Known GenesANO2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750670
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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