A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053749



Internal ID19142968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120527934..120546877hg38UCSC Ensembl
Innerchr11:120398643..120417586hg19UCSC Ensembl
Innerchr11:119903853..119922796hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3818944
hg1918944
hg1818944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3520190
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)nsv1053749
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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