A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404321



Internal ID183674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167649502..167649553hg38UCSC Ensembl
chr1:167618739..167618790hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892080
Samples
Known GenesRCSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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