A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248269



Internal ID21695778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30071599..30071599hg38UCSC Ensembl
chr7:30111215..30111215hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722129
Supporting Variants
Samples
Known GenesPLEKHA8
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)nssv17248269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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