A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245873



Internal ID21693382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149216129..149216129hg38UCSC Ensembl
chr7:148913221..148913221hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718056
Supporting Variants
Samples
Known GenesZNF282
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)nssv17245873
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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