A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612771



Internal ID21561076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12706252..12706252hg38UCSC Ensembl
chr2:12846378..12846378hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108437, nssv17108436
SamplesHG03125, NA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612771
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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