A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724315



Internal ID21750636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10912598..10912598hg38UCSC Ensembl
chr6:10912831..10912831hg19UCSC Ensembl
Cytoband6p24.2
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 Variantsnssv17251719, nssv17243522
Samples
Known GenesSYCP2L
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)nsv5724315
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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