A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427823



Internal ID206717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27780722..27783921hg38UCSC Ensembl
chr1:28107233..28110432hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901211
Samples
Known GenesSTX12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427823
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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