A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858971



Internal ID22042614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45532221..45532221hg38UCSC Ensembl
chr6:45499958..45499958hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245094
Supporting Variants
Samples
Known GenesRUNX2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858971
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