A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380046



Internal ID22437916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48446640..48512086hg38UCSC Ensembl
chr1:48912312..48977758hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3865447
hg1965447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869584
Supporting Variants
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380046
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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