A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619512



Internal ID21567817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:16194859..16194859hg38UCSC Ensembl
chr4:16196482..16196482hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38693
hg19693
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134611
SamplesNA20509
Known GenesTAPT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619512
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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