A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894744



Internal ID170663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205000032..205000083hg38UCSC Ensembl
chr1:204969160..204969211hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555218
Supporting Variants
Samples
Known GenesNFASC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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