A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613856



Internal ID21562161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3181617..3181617hg38UCSC Ensembl
chr1:3098181..3098181hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17064734
SamplesNA20509
Known GenesPRDM16
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613856
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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