A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540591



Internal ID315334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182852942..182852942hg38UCSC Ensembl
chr1:182822077..182822077hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892828
Samples
Known GenesDHX9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540591
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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