A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670124



Internal ID21618431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120347621..120809375hg38UCSC Ensembl
chr1:144526678..145297183hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38461755
hg19770506
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059997
SamplesHG00731
Known GenesLOC100288142, LOC101929780, LOC653513, NBPF10, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, PFN1P2, SEC22B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670124
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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