A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448551



Internal ID226822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190228396..190232654hg38UCSC Ensembl
chr1:190197526..190201784hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384259
hg194259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894320
Samples
Known GenesBRINP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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