A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428106



Internal ID22485976
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 StatusS
Merged Variantsnsv5893184
Supporting Variants
Samples
Known GenesADAMTS12, TARS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428106
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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