A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239748



Internal ID21687257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2850954..2850954hg38UCSC Ensembl
chr19:2850952..2850952hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714412
Supporting Variants
Samples
Known GenesZNF555
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)nssv17239748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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