A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3954347



Internal ID21374417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77332351..77332351hg38UCSC Ensembl
chr11:77043396..77043396hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190935
SamplesHG002
Known GenesPAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3954347
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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