A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398118



Internal ID177517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174249175..174249226hg38UCSC Ensembl
chr1:174218313..174218364hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683677
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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