A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426867



Internal ID205782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99247704..99258385hg38UCSC Ensembl
chr1:99713260..99723941hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3810682
hg1910682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908546
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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