A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17131716



Internal ID21481852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173891147..173891147hg38UCSC Ensembl
chr5:173318150..173318150hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5637341
Supporting Variants
SamplesHG03683
Known GenesCPEB4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17131716
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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