A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202340



Internal ID20769380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200025201..200051100hg38UCSC Ensembl
chr1:199994329..200020228hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3825900
hg1925900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329958
Supporting Variants
Samples
Known GenesNR5A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202340
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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