A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547948



Internal ID16335357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501757..154502557hg38UCSC Ensembl
Innerchr1:154474233..154475033hg19UCSC Ensembl
Innerchr1:152740857..152741657hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38801
hg19801
hg18801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n54
Supporting Variantsnssv724881, nssv724882, nssv724883, nssv724880
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547948
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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