A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748019



Internal ID20524042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11948051..11948376hg38UCSC Ensembl
chr17:11851368..11851693hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293043
Samples
Known GenesDNAH9
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748019
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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