A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755700



Internal ID20531560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119829243..119829243hg38UCSC Ensembl
chr12:120267047..120267047hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383370
hg193370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272094
Samples
Known GenesCIT
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755700
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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