A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896883



Internal ID172075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230703744..230703858hg38UCSC Ensembl
chr1:230839490..230839604hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439482
Supporting Variants
Samples
Known GenesAGT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896883
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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