A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755116



Internal ID20530976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115761401..115761401hg38UCSC Ensembl
chr1:116304022..116304022hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273923
Samples
Known GenesCASQ2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755116
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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