A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727636



Internal ID21753957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70451984..70451984hg38UCSC Ensembl
chr6:71161687..71161687hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244593
Samples
Known GenesFAM135A
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5727636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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