A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730874



Internal ID21757195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11750741..11750741hg38UCSC Ensembl
chr10:11792740..11792740hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236218, nssv17235048
Samples
Known GenesECHDC3
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)nsv5730874
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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