A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715682



Internal ID21742003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204570642..204570642hg38UCSC Ensembl
chr1:204539770..204539770hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235581, nssv17237554
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)nsv5715682
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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