A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891314



Internal ID168393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10017295..10019348hg38UCSC Ensembl
chr1:10077353..10079406hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382054
hg192054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427328
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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