A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404047



Internal ID183405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117771511..117771562hg38UCSC Ensembl
chr1:118314133..118314184hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16888978
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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