A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321311



Internal ID20854415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108785081..108844737hg38UCSC Ensembl
chr1:109327703..109387359hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3859657
hg1959657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199232
Samples
Known GenesAKNAD1, STXBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321311
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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