A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249634



Internal ID21697143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:62631263..62631263hg38UCSC Ensembl
chr10:64391023..64391023hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730391
Supporting Variants
Samples
Known GenesZNF365
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)nssv17249634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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