A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983917



Internal ID21893260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30997886..30997966hg38UCSC Ensembl
chr1:31470733..31470813hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521368
Samples
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983917
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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