A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428926



Internal ID207785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155454532..155458442hg38UCSC Ensembl
chr1:155424323..155428233hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383911
hg193911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890865
Samples
Known GenesASH1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428926
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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