A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727000



Internal ID21753321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45841689..45841689hg38UCSC Ensembl
chr19:46344947..46344947hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236337, nssv17237157
Samples
Known GenesSYMPK
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)nsv5727000
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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