A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17525040



Internal ID21849398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229472165..229472165hg38UCSC Ensembl
chr1:229607912..229607912hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6041035
Supporting Variants
Samples
Known GenesNUP133
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17525040
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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