A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974954



Internal ID22749889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16064438..16064438hg38UCSC Ensembl
chr11:16085984..16085984hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361420
Samples
Known GenesSOX6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974954
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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