A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423229



Internal ID202251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94499136..94499233hg38UCSC Ensembl
chr1:94964692..94964789hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906692
Samples
Known GenesABCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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