A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318966



Internal ID20852058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28221115..28245214hg38UCSC Ensembl
chr1:28547626..28571725hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3824100
hg1924100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203522
Samples
Known GenesATPIF1, DNAJC8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318966
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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