A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894994



Internal ID170841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207365049..207367059hg38UCSC Ensembl
chr1:207538394..207540404hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447949
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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