A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893184



Internal ID22668242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33280300..33574357hg38UCSC Ensembl
chr5:33280406..33574462hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38294058
hg19294057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428106
Samples
Known GenesADAMTS12, TARS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893184
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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