A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4389350



Internal ID21380485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190340696..190342632hg38UCSC Ensembl
chr1:190309826..190311762hg19UCSC 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 Variantsnssv15704382
Samples
Known GenesBRINP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4389350
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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