A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170239



Internal ID21314300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18190118..19018612hg38UCSC Ensembl
Outerchr22:18173093..19019471hg38UCSC Ensembl
Innerchr22:18672885..19006125hg19UCSC Ensembl
Outerchr22:18655860..19006984hg19UCSC Ensembl
Innerchr22:17052885..17386125hg18UCSC Ensembl
Outerchr22:17035860..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38846379
hg19351125
hg18351125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14249348, nssv14243183, nssv14251368, nssv14247337, nssv14248233, nssv14244038, nssv14241081, nssv14247988, nssv14250772, nssv14242388, nssv14247405, nssv14248875, nssv14251254, nssv14248864, nssv14243879, nssv14242575, nssv14250109, nssv14246913, nssv14250213, nssv14243848, nssv14251134, nssv14250685, nssv14248642
SamplesNGO_3, NGO_22, NGO_27, NGO_28, NGO_53, SNI_7, NGO_46, NGO_45, NGO_4, NGO_35, NGO_47, MLY_2, SNI_16, NGO_25, NGO_6, SNI_6, NGO_5, NGO_44, SNI_14, NGO_51
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170239
Frequency
Sample Size93
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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