A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893734



Internal ID169978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188797276..189223591hg38UCSC Ensembl
chr1:188766407..189192722hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38426316
hg19426316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140102
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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