A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242604



Internal ID21690113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52327394..52327394hg38UCSC Ensembl
chr15:52619591..52619591hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728929
Supporting Variants
Samples
Known GenesMYO5A
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)nssv17242604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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