A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624347



Internal ID21572652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238783499..238783499hg38UCSC Ensembl
chr2:239692140..239692140hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112214
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624347
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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