A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085801



Internal ID21458034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48496790..48496790hg38UCSC Ensembl
chr13:49070926..49070926hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5658823
Supporting Variants
SamplesHG02587
Known GenesRCBTB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085801
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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