A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858469



Internal ID22042112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15170160..15170160hg38UCSC Ensembl
chr1:15496656..15496656hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256206
Supporting Variants
Samples
Known GenesC1orf195, TMEM51
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858469
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