A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548299



Internal ID15989022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179483560..179487641hg38UCSC Ensembl
Innerchr1:179452695..179456776hg19UCSC Ensembl
Innerchr1:177719318..177723399hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384082
hg194082
hg184082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv647n54
Supporting Variantsnssv729325, nssv729327, nssv729326
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548299
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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