A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17129147



Internal ID21414794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132770061..132770148hg38UCSC Ensembl
chr5:132105753..132105840hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570404
Supporting Variants
SamplesHG00513
Known GenesSEPT8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17129147
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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