A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv551n172



Internal ID22814925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:10001..70108hg38UCSC Ensembl
chr4:10001..70000hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3860108
hg1960000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434126, nsv4434127
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known GenesZNF595, ZNF718
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv551n172
Frequency
Sample Size15
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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