A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237868



Internal ID21685377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202619983..202619983hg38UCSC Ensembl
chr1:202589111..202589111hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730248
Supporting Variants
Samples
Known GenesSYT2
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)nssv17237868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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