A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089984



Internal ID21454371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82251149..82251149hg38UCSC Ensembl
chr15:82543490..82543490hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648642
Supporting Variants
SamplesHG02011
Known GenesEFTUD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089984
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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