A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949204



Internal ID22724655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154447504..154447504hg38UCSC Ensembl
chr1:154419980..154419980hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360931
Samples
Known GenesIL6R
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949204
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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