A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730129



Internal ID21756450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26812937..26812937hg38UCSC Ensembl
chr7:26852556..26852556hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250553, nssv17252422
Samples
Known GenesSKAP2
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)nsv5730129
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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