A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547955



Internal ID16335364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501809..154502557hg38UCSC Ensembl
Innerchr1:154474285..154475033hg19UCSC Ensembl
Innerchr1:152740909..152741657hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n54
Supporting Variantsnssv724902, nssv724900, nssv724901
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547955
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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