A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899219



Internal ID254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248845814..248943565hg38UCSC Ensembl
chr1:249140013..249237764hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3897752
hg1997752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443940
Supporting Variants
Samples
Known GenesPGBD2, ZNF672, ZNF692
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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