A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447916



Internal ID226206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183260121..183260248hg38UCSC Ensembl
chr3:182977909..182978036hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944726
Samples
Known GenesB3GNT5, MCF2L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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