A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112228



Internal ID21405436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238870297..238870297hg38UCSC Ensembl
chr2:239778938..239778938hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615240
Supporting Variants
SamplesHG00512
Known GenesTWIST2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112228
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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