A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203189



Internal ID20770229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93902101..93909100hg38UCSC Ensembl
chr1:94367657..94374656hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315648
Supporting Variants
Samples
Known GenesGCLM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203189
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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