A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189114



Internal ID21327959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43468158..43468158hg38UCSC Ensembl
chr21:44888038..44888038hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3941860
Supporting Variants
SamplesHG002
Known GenesLINC00313
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189114
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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