A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954870



Internal ID22730096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8987642..8987642hg38UCSC Ensembl
chr3:9029326..9029326hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420523
Samples
Known GenesSRGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954870
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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