A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955459



Internal ID22730661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:93658198..93658198hg38UCSC Ensembl
chr10:95417955..95417955hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350434
Samples
Known GenesPDE6C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955459
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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