A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328952



Internal ID20862102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242521101..242524400hg38UCSC Ensembl
chr1:242684403..242687702hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200632
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328952
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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