A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758416



Internal ID20534276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101778914..101778914hg38UCSC Ensembl
chr12:102172692..102172692hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287138
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758416
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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