A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427982



Internal ID206866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67529891..67531185hg38UCSC Ensembl
chr1:67995574..67996868hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381295
hg191295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904555
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427982
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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