A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418545



Internal ID197709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91371835..91391835hg38UCSC Ensembl
chr1:91837392..91857392hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906928
Samples
Known GenesHFM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418545
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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