A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317670



Internal ID20850758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115839521..115863367hg38UCSC Ensembl
chr1:116382142..116405988hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3823847
hg1923847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199746
Samples
Known GenesNHLH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317670
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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