A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409747



Internal ID189067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168649025..168649076hg38UCSC Ensembl
chr4:169570176..169570227hg19UCSC Ensembl
Cytoband4q32.3
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 Variantsnssv16960978
Samples
Known GenesPALLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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