A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945359



Internal ID22720835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:84035935..84113149hg38UCSC Ensembl
chr15:84704687..84781901hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3877215
hg1977215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370612
Samples
Known GenesADAMTSL3, EFTUD1P1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945359
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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