A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893295



Internal ID169689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180394274..180394309hg38UCSC Ensembl
chr1:180363409..180363444hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536320
Supporting Variants
Samples
Known GenesACBD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893295
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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