A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202504



Internal ID20769544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238488418..238615184hg38UCSC Ensembl
chr1:238651718..238778484hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38126767
hg19126767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331869
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202504
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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