A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181759



Internal ID20748799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68670553..68703606hg38UCSC Ensembl
chr12:69064333..69097386hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3833054
hg1933054
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471569
Supporting Variants
Samples
Known GenesLOC100507250, NUP107
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181759
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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