A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443444



Internal ID221842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48441289..48442611hg38UCSC Ensembl
chr3:48482699..48484020hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381323
hg191322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932705
Samples
Known GenesTMA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443444
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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