A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978389



Internal ID22753324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100550306..100550306hg38UCSC Ensembl
chr13:101202560..101202560hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368741
Samples
Known GenesGGACT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978389
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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