A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728849



Internal ID21755170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195587188..195587188hg38UCSC Ensembl
chr2:196451912..196451912hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236353
Samples
Known Genes
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)nsv5728849
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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