A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404544



Internal ID183895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:107848658..107848664hg38UCSC Ensembl
chr4:108769814..108769820hg19UCSC Ensembl
Cytoband4q25
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 Variantsnssv16954827
Samples
Known GenesSGMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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