A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544989



Internal ID15985712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1342153..1351367hg38UCSC Ensembl
Innerchr1:1277533..1286747hg19UCSC Ensembl
Innerchr1:1267396..1276610hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg389215
hg199215
hg189215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29n54
Supporting Variantsnssv708556, nssv708557
Samples
Known GenesDVL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544989
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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