A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123839



Internal ID21501104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131418845..131418845hg38UCSC Ensembl
chr5:130754538..130754538hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5640662
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123839
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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