A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646364



Internal ID21594669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44142132..44142132hg38UCSC Ensembl
chr13:44716268..44716268hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17099040, nssv17094434, nssv17080189
SamplesHG00512, HG02818
Known GenesSMIM2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646364
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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