A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372820



Internal ID22598489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38856738..38856738hg38UCSC Ensembl
chr13:39430875..39430875hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5977583
Supporting Variants
Samples
Known GenesFREM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372820
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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