A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546704



Internal ID15987427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200587..85201505hg38UCSC Ensembl
Innerchr1:85666270..85667188hg19UCSC Ensembl
Innerchr1:85438858..85439776hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38919
hg19919
hg18919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv348n54
Supporting Variantsnssv718447, nssv718448
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546704
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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