A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317094



Internal ID20850178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145998616..145999216hg38UCSC Ensembl
chr1:145435846..145436446hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200818
Samples
Known GenesLOC100288142, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317094
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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