A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725895



Internal ID21752216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43580730..43580730hg38UCSC Ensembl
chr5:43580832..43580832hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247687, nssv17235203
Samples
Known GenesNNT-AS1
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)nsv5725895
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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