A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754801



Internal ID20530661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127892107..127892107hg38UCSC Ensembl
chr2:128649681..128649681hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282973
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754801
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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