A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248912



Internal ID21696421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45454757..45454757hg38UCSC Ensembl
chr10:45950205..45950205hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720206
Supporting Variants
Samples
Known GenesMARCH8
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)nssv17248912
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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