A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17145324



Internal ID21421271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80693185..80693185hg38UCSC Ensembl
chr5:79989004..79989004hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5644319
Supporting Variants
SamplesHG00731
Known GenesMSH3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17145324
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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