A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973720



Internal ID22748655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102833327..102833327hg38UCSC Ensembl
chr13:103485677..103485677hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366863
Samples
Known GenesBIVM, BIVM-ERCC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973720
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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