A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970397



Internal ID22745332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78300312..78300312hg38UCSC Ensembl
chr11:78011358..78011358hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361519
Samples
Known GenesGAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970397
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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