A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929528



Internal ID22704783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102852814..102852980hg38UCSC Ensembl
chr13:103505164..103505330hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362659
Samples
Known GenesBIVM-ERCC5, ERCC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929528
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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