A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544988



Internal ID15985711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1342153..1351311hg38UCSC Ensembl
Innerchr1:1277533..1286691hg19UCSC Ensembl
Innerchr1:1267396..1276554hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg389159
hg199159
hg189159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29n54
Supporting Variantsnssv708555
Samples
Known GenesDVL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544988
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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