A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869984



Internal ID22644919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80392882..80422896hg38UCSC Ensembl
chr17:78366682..78396696hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3830015
hg1930015
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17476501
Samples
Known GenesENDOV, LOC100294362, MIR4730, RNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869984
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