A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878748



Internal ID22653713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11291219..11292894hg38UCSC Ensembl
chr17:11194536..11196211hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381676
hg191676
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17474865
Samples
Known GenesSHISA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878748
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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