A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445200



Internal ID223557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185948587..185954587hg38UCSC Ensembl
chr1:185917719..185923719hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892936
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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