A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427719



Internal ID206616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26815855..26816940hg38UCSC Ensembl
chr1:27142346..27143431hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902501
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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