A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324471



Internal ID20857598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113199154..113207603hg38UCSC Ensembl
chr1:113741776..113750225hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388450
hg198450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199296
Samples
Known GenesLOC643441
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324471
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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