A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15191484



Internal ID21330343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70371346..70371346hg38UCSC Ensembl
chr11:70217452..70217452hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg385467
hg195467
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949675
Supporting Variants
SamplesHG002
Known GenesPPFIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15191484
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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