A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054847



Internal ID18797378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4621645..5179426hg38UCSC Ensembl
Innerchr11:4642875..5200656hg19UCSC Ensembl
Innerchr11:4599451..5157232hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38557782
hg19557782
hg18557782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3516760
Samples
Known GenesMMP26, OR51A2, OR51A4, OR51A7, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR52A1, OR52A5, OR52E2, OR52J3, OR52R1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054847
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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