A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547179



Internal ID321055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168474106..168474145hg38UCSC Ensembl
chr4:169395257..169395296hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960959
Samples
Known GenesDDX60L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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