A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725256



Internal ID21751577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97420352..97420352hg38UCSC Ensembl
chr7:97049664..97049664hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385932
hg195932
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245910, nssv17252340
Samples
Known Genes
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)nsv5725256
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer