A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663941



Internal ID21612246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49735576..49735576hg38UCSC Ensembl
chr12:50129359..50129359hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084303
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663941
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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