A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6418568



Internal ID21076121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6126840..6427855hg38UCSC Ensembl
chr8:5984362..6285376hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38301016
hg19301015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18168715
Samples
Known GenesLOC100287015, MCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6418568
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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