A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433072



Internal ID21395074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234776254..234785253hg38UCSC Ensembl
chr1:234912001..234921000hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n172
Supporting Variantsnssv15752880, nssv15748283, nssv15753649, nssv15754671, nssv15746329, nssv15750256, nssv15751627
SamplesSMI034, MDQ045, BTQ038, NB10, MDQ010, NB11, MDQ025
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433072
Frequency
Sample Size15
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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