A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547849



Internal ID16335258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151360691..151432372hg38UCSC Ensembl
Innerchr1:151333167..151404848hg19UCSC Ensembl
Innerchr1:149599791..149671472hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3871682
hg1971682
hg1871682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv564n54
Supporting Variantsnssv1173170, nssv1173171, nssv1173174, nssv1173175, nssv1173173, nssv1173172
SamplesHGDP00964, HGDP01308, HGDP01185, HGDP01311, HGDP00714, HGDP00127
Known GenesPOGZ, PSMB4, SELENBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547849
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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