A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060532



Internal ID21483796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145591322..145591322hg38UCSC Ensembl
chr1:146057704..146057704hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38962
hg19962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611255
Supporting Variants
SamplesNA12329
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF11, NBPF24
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060532
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer