A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890314



Internal ID167707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151642847..151652680hg38UCSC Ensembl
chr1:151615323..151625156hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg389834
hg199834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432926
Supporting Variants
Samples
Known GenesSNX27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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