A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848486



Internal ID22032129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42501187..42501187hg38UCSC Ensembl
chr17:40653205..40653205hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250803
Supporting Variants
Samples
Known GenesATP6V0A1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848486
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