A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317813



Internal ID20850903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186234579..186249059hg38UCSC Ensembl
chr1:186203711..186218191hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3814481
hg1914481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201785
Samples
Known GenesMIR548F1, RNU6-72P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317813
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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