A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598888



Internal ID21547519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44142132..44142236hg38UCSC Ensembl
chr13:44716268..44716372hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088302
SamplesNA12878
Known GenesSMIM2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598888
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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