A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757967



Internal ID20533827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240318579..240318579hg38UCSC Ensembl
chr2:241257996..241257996hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274280
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757967
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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