A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728596



Internal ID21754917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149890905..149890905hg38UCSC Ensembl
chr5:149270468..149270468hg19UCSC Ensembl
Cytoband5q32
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 Variantsnssv17240044
Samples
Known GenesPDE6A
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)nsv5728596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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