A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730924



Internal ID20506840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5876534..5879784hg38UCSC Ensembl
chr17:5779854..5783104hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383251
hg193251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284292
Samples
Known GenesLOC339166
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730924
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