A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701638



Internal ID21727959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74511213..74511213hg38UCSC Ensembl
chr16:74545111..74545111hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214183, nssv17199408
Samples
Known GenesGLG1
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)nsv5701638
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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