A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592574



Internal ID21541156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10240379..10258107hg38UCSC Ensembl
chr12:10392978..10410706hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817729
hg1917729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077060
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592574
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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