A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547643



Internal ID16335052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121742721..121743365hg38UCSC Ensembl
Innerchr1:121484519..121485163hg19UCSC Ensembl
Innerchr1:121186042..121186686hg18UCSC Ensembl
Cytoband1p11.1
Allele length
AssemblyAllele length
hg38645
hg19645
hg18645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv528n54
Supporting Variantsnssv723047
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547643
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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