A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242972



Internal ID21690481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57685723..57685723hg38UCSC Ensembl
chr19:58197091..58197091hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716747
Supporting Variants
Samples
Known GenesZNF551
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)nssv17242972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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