A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209835



Internal ID20776876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48437701..48442300hg38UCSC Ensembl
chr2:48664840..48669439hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349931
Supporting Variants
Samples
Known GenesPPP1R21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209835
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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