A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204373



Internal ID21343173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10767711..10767711hg38UCSC Ensembl
chr8:10625221..10625221hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3935022
Supporting Variants
SamplesHG002
Known GenesPINX1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204373
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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