A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942487



Internal ID22717925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74931218..74931796hg38UCSC Ensembl
chr17:72927313..72927891hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380889
Samples
Known GenesOTOP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942487
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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