A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18169809



Internal ID20736849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6332394..6449967hg38UCSC Ensembl
chr8:6189915..6307488hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38117574
hg19117574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415722
Supporting Variants
Samples
Known GenesLOC100287015, MCPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18169809
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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