A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390362



Internal ID22448232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393674..100393674hg38UCSC Ensembl
chr3:100112518..100112518hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959662
Supporting Variants
Samples
Known GenesTOMM70A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390362
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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