A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140991



Internal ID340185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110826229..110827742hg38UCSC Ensembl
chr6:111147432..111148945hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381514
hg191514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988006
Samples
Known GenesAMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140991
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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