A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251619



Internal ID21699128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77390946..77390946hg38UCSC Ensembl
chr7:77020263..77020263hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717602
Supporting Variants
Samples
Known GenesGSAP
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)nssv17251619
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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