A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900006



Internal ID22675143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177191841..177192134hg38UCSC Ensembl
chr3:176909629..176909922hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421872
Samples
Known GenesTBL1XR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900006
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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