A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143304



Internal ID342505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:628000..704000hg38UCSC Ensembl
chr11:628000..704000hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3876001
hg1976001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041903
Samples
Known GenesDEAF1, DRD4, TMEM80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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