A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958488



Internal ID22733550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3319878..3319878hg38UCSC Ensembl
chr7:3359510..3359510hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433816
Samples
Known GenesSDK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958488
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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