A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608352



Internal ID21556657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31304589..31304589hg38UCSC Ensembl
chr2:31527455..31527455hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113980
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608352
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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