A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044424



Internal ID18786955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134385496..134500539hg38UCSC Ensembl
Innerchr11:134255390..134370433hg19UCSC Ensembl
Innerchr11:133760600..133875643hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38115044
hg19115044
hg18115044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1306n100
Supporting Variantsnssv3516110
Samples
Known GenesB3GAT1, LOC283177
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044424
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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