A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236341



Internal ID21683850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197903410..197903410hg38UCSC Ensembl
chr1:197872540..197872540hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727262
Supporting Variants
Samples
Known GenesC1orf53
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)nssv17236341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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