A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433196



Internal ID21395198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91385444..91388443hg38UCSC Ensembl
chr1:91851001..91854000hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15748360
SamplesSMI041
Known GenesHFM1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433196
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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