A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902972



Internal ID2799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51119765..51153631hg38UCSC Ensembl
chr1:51585437..51619303hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3833867
hg1933867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419183
Supporting Variants
Samples
Known GenesC1orf185
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer