A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241712



Internal ID21689221
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 StatusS
Merged Variantsnsv5725499
Supporting Variants
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)nssv17241712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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