A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258122



Internal ID22062732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212600720..212600720hg38UCSC Ensembl
chr1:212774062..212774062hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843758
Samples
Known GenesATF3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258122
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