A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200572



Internal ID20767612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216075698..216144602hg38UCSC Ensembl
chr1:216249040..216317944hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3868905
hg1968905
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321808
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200572
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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