A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6418037



Internal ID21075590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6271141..6446812hg38UCSC Ensembl
chr8:6128662..6304333hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38175672
hg19175672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18221601
Samples
Known GenesLOC100287015, MCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6418037
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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