A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17152051



Internal ID21405553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68217891..68217891hg38UCSC Ensembl
chr8:69130126..69130126hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5634678
Supporting Variants
SamplesHG00512
Known GenesPREX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17152051
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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