A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894999



Internal ID170844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207407380..207407387hg38UCSC Ensembl
chr1:207580725..207580732hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534305
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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