A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322375



Internal ID20855488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76839584..76870642hg38UCSC Ensembl
chr1:77305269..77336327hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3831059
hg1931059
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204442
Samples
Known GenesST6GALNAC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322375
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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