A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395802



Internal ID175224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190260995..190261046hg38UCSC Ensembl
chr1:190230125..190230176hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894325
Samples
Known GenesBRINP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395802
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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