A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17143729



Internal ID21508710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48404472..48404472hg38UCSC Ensembl
chr8:49317032..49317032hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5625658
Supporting Variants
SamplesNA20847
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17143729
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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