A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953051



Internal ID22728347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179522823..179522823hg38UCSC Ensembl
chr1:179491958..179491958hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354342
Samples
Known GenesAXDND1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953051
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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