A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678583



Internal ID21704904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151955617..151955617hg38UCSC Ensembl
chr6:152276752..152276752hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215863, nssv17180746
Samples
Known GenesESR1
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)nsv5678583
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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