A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954977



Internal ID22730202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58993880..58993880hg38UCSC Ensembl
chr8:59906439..59906439hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449174
Samples
Known GenesTOX
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954977
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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