A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613975



Internal ID21562280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238398077..238398077hg38UCSC Ensembl
chr2:239306718..239306718hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112035
SamplesHG00731
Known GenesTRAF3IP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613975
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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