A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546192



Internal ID16333601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48451344..48511912hg38UCSC Ensembl
Innerchr1:48917016..48977584hg19UCSC Ensembl
Innerchr1:48689603..48750171hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3860569
hg1960569
hg1860569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173846
SamplesHGDP00899
Known GenesSPATA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546192
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer