A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060513



Internal ID21414168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145311473..145311473hg38UCSC Ensembl
chr1:146462026..146462026hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615545
Supporting Variants
SamplesHG00513
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060513
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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