A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17229636



Internal ID21677145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64042284..64042284hg38UCSC Ensembl
chr1:64507956..64507956hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693829
Supporting Variants
Samples
Known GenesROR1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17229636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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