A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839911



Internal ID22023554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180338904..180338904hg38UCSC Ensembl
chr1:180308039..180308039hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246080
Supporting Variants
Samples
Known GenesACBD6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839911
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