A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243693



Internal ID21691202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12945978..12945978hg38UCSC Ensembl
chr18:12945977..12945977hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728618
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)nssv17243693
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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