A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108438



Internal ID21486598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127105467..127105467hg38UCSC Ensembl
chr2:127863043..127863043hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611832
Supporting Variants
SamplesNA12878
Known GenesBIN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108438
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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