A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649832



Internal ID21598137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13140363..13140363hg38UCSC Ensembl
chr12:13293297..13293297hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17078125
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649832
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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