A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892363



Internal ID169104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161107684..161107878hg38UCSC Ensembl
chr1:161077474..161077668hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416356
Supporting Variants
Samples
Known GenesPFDN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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