A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060597



Internal ID21491882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149272579..149272901hg38UCSC Ensembl
chr1:145026729..145027051hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575390
Supporting Variants
SamplesNA19238
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060597
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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