A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088346



Internal ID21455358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50206149..50206149hg38UCSC Ensembl
chr15:50498346..50498346hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647843
Supporting Variants
SamplesHG02011
Known GenesSLC27A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088346
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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