A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130922



Internal ID21492547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179748397..179748397hg38UCSC Ensembl
chr5:179175398..179175398hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5632179
Supporting Variants
SamplesNA19238
Known GenesMAML1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130922
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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