A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv310n172



Internal ID22814684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21275689..21450688hg38UCSC Ensembl
chr17:21179001..21354000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38175000
hg19175000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432485, nsv4432483, nsv4432482, nsv4432484
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known GenesKCNJ12, KCNJ18, MAP2K3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv310n172
Frequency
Sample Size15
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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