A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717324



Internal ID21743645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90075803..90075803hg38UCSC Ensembl
chr6:90785522..90785522hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245380, nssv17240195
Samples
Known GenesBACH2
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)nsv5717324
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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