A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547946



Internal ID16335355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501655..154502561hg38UCSC Ensembl
Innerchr1:154474131..154475037hg19UCSC Ensembl
Innerchr1:152740755..152741661hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38907
hg19907
hg18907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n54
Supporting Variantsnssv724872, nssv724875, nssv724876, nssv724873, nssv724874, nssv724871, nssv724877
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547946
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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