A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130530



Internal ID21502005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6067579..6067579hg38UCSC Ensembl
chr4:6069306..6069306hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5617045
Supporting Variants
SamplesNA19239
Known GenesJAKMIP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130530
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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