A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248581



Internal ID21696090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26274598..26274598hg38UCSC Ensembl
chr1:26601089..26601089hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721799
Supporting Variants
Samples
Known GenesCEP85
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17248581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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