A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546705



Internal ID15987428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200587..85201563hg38UCSC Ensembl
Innerchr1:85666270..85667246hg19UCSC Ensembl
Innerchr1:85438858..85439834hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv349n54
Supporting Variantsnssv718449
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546705
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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