A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397407



Internal ID176813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48198948..48198999hg38UCSC Ensembl
chr4:48200965..48201016hg19UCSC Ensembl
Cytoband4p11
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 Variantsnssv16950011
Samples
Known GenesTEC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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