A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606516



Internal ID21554821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238870319..238870319hg38UCSC Ensembl
chr2:239778960..239778960hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38891
hg19891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112229
SamplesHG00731
Known GenesTWIST2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606516
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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