A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5632444



Internal ID21580749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55991588..55991588hg38UCSC Ensembl
chr5:55287416..55287416hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17155139
SamplesNA19238
Known GenesIL6ST
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5632444
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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