A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857724



Internal ID22041367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95065241..95065241hg38UCSC Ensembl
chr1:95530797..95530797hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244390
Supporting Variants
Samples
Known GenesALG14
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857724
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