A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5587229



Internal ID21535789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113314199..113314486hg38UCSC Ensembl
chr13:113968514..113968801hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086273
SamplesHG00512
Known GenesLAMP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5587229
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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