A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433079



Internal ID21395081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240184701..240185700hg38UCSC Ensembl
chr1:240348001..240349000hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15746888, nssv15750797
SamplesBTQ038, BTQ055
Known GenesFMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433079
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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