A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423687



Internal ID21081240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67107227..67219232hg38UCSC Ensembl
chr8:68019462..68131467hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38112006
hg19112006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18220629
Samples
Known GenesARFGEF1, CSPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6423687
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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