A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902165



Internal ID22677320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33280409..33574589hg38UCSC Ensembl
chr5:33280515..33574694hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38294181
hg19294180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414269
Samples
Known GenesADAMTS12, TARS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902165
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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