A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894724



Internal ID170651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202961490..202961517hg38UCSC Ensembl
chr1:202930618..202930645hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396938
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894724
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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