A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17146783



Internal ID21447040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76191190..76191190hg38UCSC Ensembl
chr5:75487015..75487015hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382666
hg192666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5640464
Supporting Variants
SamplesHG00732
Known GenesSV2C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17146783
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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