A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714946



Internal ID21741267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85784121..85784121hg38UCSC Ensembl
chr2:86011244..86011244hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238629
Samples
Known GenesATOH8
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)nsv5714946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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