A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239582



Internal ID21687091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93862981..93862981hg38UCSC Ensembl
chr5:93198687..93198687hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381627
hg191627
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730586
Supporting Variants
Samples
Known GenesFAM172A
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)nssv17239582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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