A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18171114



Internal ID20738154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78718401..78720700hg38UCSC Ensembl
chr8:79630636..79632935hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6416927
Supporting Variants
Samples
Known GenesZC2HC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18171114
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00228


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