A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054122



Internal ID18796653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:75161747..75184196hg38UCSC Ensembl
Innerchr11:74872792..74895241hg19UCSC Ensembl
Innerchr11:74550440..74572889hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3822450
hg1922450
hg1822450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3516522
Samples
Known GenesSLCO2B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054122
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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