A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204418



Internal ID21343221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53468966..53468966hg38UCSC Ensembl
chr8:54381526..54381526hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3940782
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204418
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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