A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896129



Internal ID22671218
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 StatusM
Merged Variants
Supporting Variantsnssv17428540
Samples
Known GenesDEPDC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896129
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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