A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896186



Internal ID171604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214145977..214146098hg38UCSC Ensembl
chr1:214319320..214319441hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434057
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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