A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200319



Internal ID20767359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103027501..103031200hg38UCSC Ensembl
chr1:103493057..103496756hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328974
Supporting Variants
Samples
Known GenesCOL11A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200319
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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