A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249444



Internal ID21696953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56103554..56103554hg38UCSC Ensembl
chr8:57016113..57016113hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728289
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)nssv17249444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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