A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056744



Internal ID19145963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46929089..47055381hg38UCSC Ensembl
Innerchr18:44509052..44581752hg19UCSC Ensembl
Innerchr18:42763050..42835750hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38126293
hg1972701
hg1872701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565392
Samples
Known GenesKATNAL2, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056744
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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