A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215863



Internal ID21663372
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 StatusS
Merged Variantsnsv5678583
Supporting Variants
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)nssv17215863
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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