A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17126111



Internal ID21478294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179134907..179134986hg38UCSC Ensembl
chr5:178561908..178561987hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5568454
Supporting Variants
SamplesHG03486
Known GenesADAMTS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17126111
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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