A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249749



Internal ID22054359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63063377..63063377hg38UCSC Ensembl
chr15:63355576..63355576hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846852
Samples
Known GenesTPM1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249749
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