A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425856



Internal ID204806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29769382..30451469hg38UCSC Ensembl
chr1:30242229..30924316hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38682088
hg19682088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903514
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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