A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239654



Internal ID21687163
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 StatusS
Merged Variantsnsv5727792
Supporting Variants
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)nssv17239654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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