A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317190



Internal ID20850274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223231602..223268250hg38UCSC Ensembl
chr1:223404944..223441592hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3836649
hg1936649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202661
Samples
Known GenesSUSD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317190
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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