A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330193



Internal ID20863348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9000457..9123749hg38UCSC Ensembl
chr1:9060516..9183808hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38123293
hg19123293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205224
Samples
Known GenesGPR157, SLC2A5, SLC2A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330193
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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