A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930071



Internal ID22705331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54895737..54896026hg38UCSC Ensembl
chr17:52973098..52973387hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389245
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930071
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