A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200658



Internal ID20767698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244352188..244392089hg38UCSC Ensembl
chr1:244515490..244555391hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3839902
hg1939902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331576
Supporting Variants
Samples
Known GenesC1orf100
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200658
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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