A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332147



Internal ID20865316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243422101..243425000hg38UCSC Ensembl
chr1:243585403..243588302hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059558
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332147
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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