A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427919



Internal ID206805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89389000..89412000hg38UCSC Ensembl
chr1:89854559..89877559hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3823001
hg1923001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905611
Samples
Known GenesGBP1P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427919
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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