A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649014



Internal ID21597319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40996195..40996195hg38UCSC Ensembl
chr13:41570331..41570331hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088119
SamplesHG02011
Known GenesELF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649014
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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