A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17505875



Internal ID22563819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48129105..48133051hg38UCSC Ensembl
chr6:48096841..48100787hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg383947
hg193947
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5845526
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17505875
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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