A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889992



Internal ID22665016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100500365..100500418hg38UCSC Ensembl
chr3:100219209..100219262hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396322
Samples
Known GenesTMEM45A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889992
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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