A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431034



Internal ID209822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27878862..27936926hg38UCSC Ensembl
chr1:28205373..28263437hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3858065
hg1958065
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901224
Samples
Known GenesRPA2, SMPDL3B, THEMIS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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