A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244288



Internal ID22048898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83979660..83979660hg38UCSC Ensembl
chr1:84445343..84445343hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855185
Samples
Known GenesTTLL7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244288
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