A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719914



Internal ID21746235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62456559..62456559hg38UCSC Ensembl
chr1:62922230..62922230hg19UCSC Ensembl
Cytoband1p31.3
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 Variantsnssv17241182, nssv17250933
Samples
Known GenesDOCK7
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)nsv5719914
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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