A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717961



Internal ID21744282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10186498..10186498hg38UCSC Ensembl
chr2:10326624..10326624hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233776, nssv17234724
Samples
Known GenesC2orf48
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)nsv5717961
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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