A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448173



Internal ID226454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197553258..197910749hg38UCSC Ensembl
chr3:197280129..197637620hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38357492
hg19357492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943814
Samples
Known GenesBDH1, FYTTD1, IQCG, KIAA0226, LOC220729, LRCH3, MIR922
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448173
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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