A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112227



Internal ID21448563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238870219..238870219hg38UCSC Ensembl
chr2:239778860..239778860hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383084
hg193084
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621768
Supporting Variants
SamplesHG00864
Known GenesTWIST2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112227
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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