A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252868



Internal ID21700377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87866165..87866165hg38UCSC Ensembl
chr4:88787317..88787317hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727282
Supporting Variants
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)nssv17252868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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