A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250556



Internal ID21698065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214483378..214483378hg38UCSC Ensembl
chr1:214656721..214656721hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727365
Supporting Variants
Samples
Known GenesPTPN14
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)nssv17250556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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