A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123994



Internal ID21418755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138772789..138772863hg38UCSC Ensembl
chr5:138108478..138108552hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567105
Supporting Variants
SamplesHG00731
Known GenesCTNNA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123994
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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