A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724150



Internal ID21750471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121902098..121902098hg38UCSC Ensembl
chr9:124664377..124664377hg19UCSC Ensembl
Cytoband9q33.2
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 Variantsnssv17248946, nssv17240890
Samples
Known GenesTTLL11
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)nsv5724150
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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