A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458747



Internal ID236767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:164884533..164903063hg38UCSC Ensembl
chr4:165805685..165824215hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3818531
hg1918531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959847
Samples
Known GenesLOC100506013
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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