A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893813



Internal ID22668879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119514234..119515108hg38UCSC Ensembl
chr3:119233081..119233955hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38875
hg19875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399409
Samples
Known GenesTIMMDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893813
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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