A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17084162



Internal ID21435483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88127094..88127094hg38UCSC Ensembl
chr12:88520871..88520871hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5651813
Supporting Variants
SamplesHG00731
Known GenesCEP290
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17084162
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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