A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17092439



Internal ID21414365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29558208..29558208hg38UCSC Ensembl
chr13:30132345..30132345hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655021
Supporting Variants
SamplesHG00513
Known GenesSLC7A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17092439
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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