A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243963



Internal ID21691472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99476869..99476869hg38UCSC Ensembl
chr1:99942425..99942425hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715669
Supporting Variants
Samples
Known Genes
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)nssv17243963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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