A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234935



Internal ID21682444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48800021..48800021hg38UCSC Ensembl
chr12:49193804..49193804hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381140
hg191140
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724470
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)nssv17234935
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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