A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926471



Internal ID22701698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64863933..64865372hg38UCSC Ensembl
chr11:64631405..64632844hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350552
Samples
Known GenesEHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926471
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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