A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065237



Internal ID21486871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40132583..40132583hg38UCSC Ensembl
chr1:40598255..40598255hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610195
Supporting Variants
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065237
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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