A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442768



Internal ID221185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205016181..205028532hg38UCSC Ensembl
chr1:204985309..204997660hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3812352
hg1912352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894745
Samples
Known GenesNFASC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442768
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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