A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6609662



Internal ID20982733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118509549..118659681hg38UCSC Ensembl
chr6:118830712..118980844hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38150133
hg19150133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6376n223
Supporting Variantsnssv18214548
Samples
Known GenesCEP85L, PLN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6609662
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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