A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904011



Internal ID22679184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100289472..100332840hg38UCSC Ensembl
chr3:100008316..100051684hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3843369
hg1943369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399161
Samples
Known GenesTBC1D23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904011
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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