A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428540



Internal ID22486410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60675531..60675659hg38UCSC Ensembl
chr5:59971358..59971486hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896129
Supporting Variants
Samples
Known GenesDEPDC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428540
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004


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