A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547932



Internal ID16335341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153702228..153719897hg38UCSC Ensembl
Innerchr1:153674704..153692373hg19UCSC Ensembl
Innerchr1:151941328..151958997hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3817670
hg1917670
hg1817670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n54
Supporting Variantsnssv724846
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547932
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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