A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546097



Internal ID16333506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40914871hg38UCSC Ensembl
Innerchr1:41347228..41380543hg19UCSC Ensembl
Innerchr1:41119815..41153130hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3833316
hg1933316
hg1833316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249n54
Supporting Variantsnssv1173833, nssv1173832
SamplesHGDP00084, HGDP00628
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546097
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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