A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203093



Internal ID20770133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40099049..40103298hg38UCSC Ensembl
chr1:40564721..40568970hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384250
hg194250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321630
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203093
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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