A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717432



Internal ID21743753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212801308..212801308hg38UCSC Ensembl
chr1:212974650..212974650hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245753, nssv17233806
Samples
Known GenesTATDN3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5717432
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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