A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547942



Internal ID16335351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501655..154502308hg38UCSC Ensembl
Innerchr1:154474131..154474784hg19UCSC Ensembl
Innerchr1:152740755..152741408hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38654
hg19654
hg18654
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724864, nssv724863, nssv724865
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547942
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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