A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896541



Internal ID171841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235123269..235131324hg38UCSC Ensembl
chr1:235286584..235294639hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388056
hg198056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139454
Supporting Variants
Samples
Known GenesRBM34, SNORA14B, TOMM20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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