A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200580



Internal ID20767620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217180258..217246433hg38UCSC Ensembl
chr1:217353600..217419775hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3866176
hg1966176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317932
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200580
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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