A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044121



Internal ID18786652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1946041..2033658hg38UCSC Ensembl
Innerchr11:1967271..2054888hg19UCSC Ensembl
Innerchr11:1923847..2011464hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3887618
hg1987618
hg1887618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1016n100
Supporting Variantsnssv3510060, nssv3516802, nssv3514221
Samples
Known GenesH19, MIR675, MRPL23, MRPL23-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044121
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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