A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931347



Internal ID22706630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5808100..5856176hg38UCSC Ensembl
chr17:5711420..5759496hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3848077
hg1948077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382064
Samples
Known GenesLOC339166
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931347
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