A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436124



Internal ID214746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226947926..226957502hg38UCSC Ensembl
chr1:227135627..227145203hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389577
hg199577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897264
Samples
Known GenesADCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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