A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872230



Internal ID22647169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190340695..190342631hg38UCSC Ensembl
chr1:190309825..190311761hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381937
hg191937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354944
Samples
Known GenesBRINP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872230
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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