A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203983



Internal ID20771023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41953101..41956800hg38UCSC Ensembl
chr21:43373210..43376909hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554667
Supporting Variants
Samples
Known GenesC2CD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203983
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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