A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593712



Internal ID21542303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44142132..44142181hg38UCSC Ensembl
chr13:44716268..44716317hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17089279
SamplesHG00731
Known GenesSMIM2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593712
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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