A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318083



Internal ID20851174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76446868..76452421hg38UCSC Ensembl
chr1:76912553..76918106hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385554
hg195554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204437
Samples
Known GenesST6GALNAC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318083
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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