A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204424



Internal ID21343227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54555415..54555415hg38UCSC Ensembl
chr8:55467975..55467975hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946573
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204424
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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