A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872006



Internal ID22646944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4941482..4943231hg38UCSC Ensembl
chr17:4844777..4846526hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17474522
Samples
Known GenesRNF167
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872006
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