A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725499



Internal ID21751820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44703123..44703123hg38UCSC Ensembl
chr7:44742722..44742722hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241712
Samples
Known GenesOGDH
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)nsv5725499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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