A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730951



Internal ID21757272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37767935..37767935hg38UCSC Ensembl
chr6:37735711..37735711hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250256, nssv17249585
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)nsv5730951
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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