A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730413



Internal ID21756734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8638644..8638644hg38UCSC Ensembl
chr12:8791240..8791240hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248257, nssv17238878
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)nsv5730413
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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