A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857319



Internal ID22040962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119655423..119655423hg38UCSC Ensembl
chr1:120198046..120198046hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256720
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857319
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer