A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237397



Internal ID21684906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53102959..53102959hg38UCSC Ensembl
chr14:53569677..53569677hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727967
Supporting Variants
Samples
Known GenesDDHD1
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)nssv17237397
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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