A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv633n172



Internal ID22815007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21476892..21573891hg38UCSC Ensembl
chr5:21477001..21574000hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3897000
hg1997000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434617, nsv4434616, nsv4434618
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, SMI041, NB11, NB07, SMI018, NB09
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv633n172
Frequency
Sample Size15
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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