A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189117



Internal ID21327962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43743497..43743497hg38UCSC Ensembl
chr21:45163378..45163378hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3938804
Supporting Variants
SamplesHG002
Known GenesPDXK
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189117
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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