A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751593



Internal ID20527453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97717357..97717357hg38UCSC Ensembl
chr2:98333820..98333820hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282946
Samples
Known GenesZAP70
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751593
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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