A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949131



Internal ID22724584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172283780..172283780hg38UCSC Ensembl
chr1:172252920..172252920hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351804
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949131
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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