A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546716



Internal ID15987439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200850..85201622hg38UCSC Ensembl
Innerchr1:85666533..85667305hg19UCSC Ensembl
Innerchr1:85439121..85439893hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38773
hg19773
hg18773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv349n54
Supporting Variantsnssv718467
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546716
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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