A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675244



Internal ID21701565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87290533..87290533hg38UCSC Ensembl
chr6:88000251..88000251hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228672, nssv17179979
Samples
Known GenesGJB7
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)nsv5675244
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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