A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717600



Internal ID21743921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213222381..213222381hg38UCSC Ensembl
chr1:213395724..213395724hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236769
Samples
Known GenesRPS6KC1
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)nsv5717600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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