A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590829



Internal ID21539399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10337315..10338027hg38UCSC Ensembl
chr12:10489914..10490626hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076522
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590829
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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