A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965814



Internal ID22740749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131193629..131193629hg38UCSC Ensembl
chr9:134069016..134069016hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432944
Samples
Known GenesNUP214
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965814
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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