A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859031



Internal ID22042674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83693273..83693273hg38UCSC Ensembl
chr6:84402992..84402992hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256803
Supporting Variants
Samples
Known GenesSNAP91
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859031
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