A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233806



Internal ID21681315
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 StatusS
Merged Variantsnsv5717432
Supporting Variants
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)nssv17233806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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