A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054301



Internal ID18796832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120525776..120595091hg38UCSC Ensembl
Innerchr11:120396485..120465800hg19UCSC Ensembl
Innerchr11:119901695..119971010hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3869316
hg1969316
hg1869316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1289n100
Supporting Variantsnssv3516691
Samples
Known GenesGRIK4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054301
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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