A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201263



Internal ID20768303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161587501..161638900hg38UCSC Ensembl
chr1:161557291..161608690hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3851400
hg1951400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331465
Supporting Variants
Samples
Known GenesFCGR2C, FCGR3B, HSPA7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201263
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.04246


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