A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247709



Internal ID21695218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47709005..47709005hg38UCSC Ensembl
chr12:48102788..48102788hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714899
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)nssv17247709
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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