A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434616



Internal ID21396618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21476892..21572891hg38UCSC Ensembl
chr5:21477001..21573000hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3896000
hg1996000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv633n172
Supporting Variantsnssv15746031, nssv15747334
SamplesSMI034, SMI041
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434616
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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