A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236523



Internal ID21684032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52255708..52255708hg38UCSC Ensembl
chr15:52547905..52547905hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715389
Supporting Variants
Samples
Known GenesMYO5C
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)nssv17236523
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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