A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899484



Internal ID22674614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119449450..119449501hg38UCSC Ensembl
chr3:119168297..119168348hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391950
Samples
Known GenesTMEM39A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899484
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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