A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717208



Internal ID21743529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61346834..61346834hg38UCSC Ensembl
chr11:61114306..61114306hg19UCSC Ensembl
Cytoband11q12.2
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 Variantsnssv17247738, nssv17237353
Samples
Known GenesDAK
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)nsv5717208
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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