A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949570



Internal ID22725019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103407971..103407971hg38UCSC Ensembl
chr8:104420199..104420199hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449149
Samples
Known GenesSLC25A32
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949570
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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