A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4759716



Internal ID20535576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9853061..9853061hg38UCSC Ensembl
chr12:10005660..10005660hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16260735
Samples
Known GenesCLEC2B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4759716
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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