A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169792



Internal ID21313603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46923521..46959272hg38UCSC Ensembl
Outerchr18:46921033..47037791hg38UCSC Ensembl
Innerchr18:44503484..44539235hg19UCSC Ensembl
Outerchr18:44500996..44564162hg19UCSC Ensembl
Innerchr18:42757482..42793233hg18UCSC Ensembl
Outerchr18:42754994..42818160hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38116759
hg1963167
hg1863167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250555
SamplesMLY_6
Known GenesKATNAL2, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169792
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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