A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852184



Internal ID22035827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97438810..97438810hg38UCSC Ensembl
chr3:97157654..97157654hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254376
Supporting Variants
Samples
Known GenesEPHA6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852184
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