A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5655699



Internal ID21604004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52248856..52248856hg38UCSC Ensembl
chr16:52282768..52282768hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093983, nssv17083431, nssv17095606
SamplesHG00731, NA12878, HG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5655699
Frequency
Sample Size35
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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