A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717412



Internal ID21743733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65350722..65350722hg38UCSC Ensembl
chr2:65577856..65577856hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239561
Samples
Known GenesSPRED2
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)nsv5717412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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