A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948154



Internal ID21368223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57661940..57661940hg38UCSC Ensembl
chr20:56236996..56236996hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189010
SamplesHG002
Known GenesPMEPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948154
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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