A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972316



Internal ID22747251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14057843..14057843hg38UCSC Ensembl
chr11:14079390..14079390hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356509
Samples
Known GenesSPON1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972316
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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