A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453229



Internal ID231359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112060249..112102420hg38UCSC Ensembl
chr3:111779096..111821267hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3842172
hg1942172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936372
Samples
Known GenesC3orf52, TMPRSS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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