A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890679



Internal ID167965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158290137..158290843hg38UCSC Ensembl
chr1:158259927..158260633hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425810
Supporting Variants
Samples
Known GenesCD1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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