A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430264



Internal ID209079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5430872..5430962hg38UCSC Ensembl
chr1:5490932..5491022hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904368
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430264
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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