A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316115



Internal ID20849193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76310436..76438410hg38UCSC Ensembl
chr1:76776121..76904095hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38127975
hg19127975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204436
Samples
Known GenesST6GALNAC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316115
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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