A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727792



Internal ID21754113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182721707..182721707hg38UCSC Ensembl
chr2:183586434..183586434hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381232
hg191232
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241544, nssv17239654
Samples
Known GenesDNAJC10
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)nsv5727792
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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