A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049947



Internal ID19139166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50112356..50564838hg38UCSC Ensembl
Innerchr11:50071527..50524009hg19UCSC Ensembl
Innerchr11:50028103..50480585hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38452483
hg19452483
hg18452483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1136n100
Supporting Variantsnssv3518504
Samples
Known GenesLOC441601, LOC646813
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049947
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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