A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201690



Internal ID20768731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178718201..178725100hg38UCSC Ensembl
chr1:178687336..178694235hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333146
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201690
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00082


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