A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434617



Internal ID21396619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21477892..21572891hg38UCSC Ensembl
chr5:21478001..21573000hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3895000
hg1995000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv633n172
Supporting Variantsnssv15751172, nssv15753533, nssv15746391, nssv15747305, nssv15753443, nssv15749252, nssv15747157, nssv15754545
SamplesNB12, NB08, BTQ038, NB10, BTQ055, NB07, SMI018, NB09
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434617
Frequency
Sample Size15
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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