A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328911



Internal ID20862061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54736660..54808302hg38UCSC Ensembl
chr1:55202333..55273975hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3871643
hg1971643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201485
Samples
Known GenesC1orf177, MROH7-TTC4, PARS2, TTC22, TTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328911
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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