A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416532



Internal ID195753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23869676..23870541hg38UCSC Ensembl
chr1:24196166..24197031hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901119
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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