A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607349



Internal ID21555654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171983398..171983398hg38UCSC Ensembl
chr1:171952538..171952538hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061912
SamplesNA19239
Known GenesDNM3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607349
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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