A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248748



Internal ID21696257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111822040..111822040hg38UCSC Ensembl
chr7:111462096..111462096hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716438
Supporting Variants
Samples
Known GenesDOCK4
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)nssv17248748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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