A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932179



Internal ID22707472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62058985..62059097hg38UCSC Ensembl
chr17:60136346..60136458hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370608
Samples
Known GenesMED13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932179
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