A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187943



Internal ID20754983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21478301..21578700hg38UCSC Ensembl
chr16:21489622..21590021hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38100400
hg19100400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511878
Supporting Variants
Samples
Known GenesLOC100271836, SLC7A5P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187943
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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