A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244235



Internal ID21691744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145921267..145921267hg38UCSC Ensembl
chr1:145513825..145513825hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716937
Supporting Variants
Samples
Known GenesGNRHR2, LOC100288142, NBPF10
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)nssv17244235
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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