A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401901



Internal ID181276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244011809..244011852hg38UCSC Ensembl
chr1:244175111..244175154hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898188
Samples
Known GenesLOC339529
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401901
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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