A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965912



Internal ID22740847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37982033..37982033hg38UCSC Ensembl
chr1:38447705..38447705hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384708
Samples
Known GenesSF3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965912
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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