A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621650



Internal ID21569955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118142056..118142056hg38UCSC Ensembl
chr1:118684679..118684679hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059820
SamplesNA20509
Known GenesSPAG17
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621650
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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