A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977413



Internal ID22752348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30336306..30336306hg38UCSC Ensembl
chr13:30910443..30910443hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387417
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977413
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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