A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201249



Internal ID20768289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161550470..161631867hg38UCSC Ensembl
chr1:161520260..161601657hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881398
hg1981398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330598
Supporting Variants
Samples
Known GenesFCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201249
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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