A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321117



Internal ID20854220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120191301..120237400hg38UCSC Ensembl
chr1:145035538..145081634hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3846100
hg1946097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv321n223
Supporting Variantsnssv18200385
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321117
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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