A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956192



Internal ID22731384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:24163822..24163822hg38UCSC Ensembl
chr3:24205313..24205313hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419317
Samples
Known GenesTHRB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956192
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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