A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247975



Internal ID21695484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44231802..44231802hg38UCSC Ensembl
chr19:44735955..44735955hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381582
hg191582
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729073
Supporting Variants
Samples
Known GenesZNF227
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)nssv17247975
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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