A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547952



Internal ID16335361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501808..154502561hg38UCSC Ensembl
Innerchr1:154474284..154475037hg19UCSC Ensembl
Innerchr1:152740908..152741661hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38754
hg19754
hg18754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n54
Supporting Variantsnssv724896
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547952
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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