A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900140



Internal ID878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23370914..23370965hg38UCSC Ensembl
chr1:23697407..23697458hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405756
Supporting Variants
Samples
Known GenesC1orf213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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