A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401782



Internal ID181158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169369770..169369821hg38UCSC Ensembl
chr1:169339008..169339059hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891886
Samples
Known GenesBLZF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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