A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957409



Internal ID22732527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229486325..229486325hg38UCSC Ensembl
chr1:229622072..229622072hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368954
Samples
Known GenesNUP133
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957409
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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