A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111127



Internal ID21454108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213567514..213567514hg38UCSC Ensembl
chr2:214432238..214432238hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5617759
Supporting Variants
SamplesHG02011
Known GenesSPAG16
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111127
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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