A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544990



Internal ID15985713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1342153..1351747hg38UCSC Ensembl
Innerchr1:1277533..1287127hg19UCSC Ensembl
Innerchr1:1267396..1276990hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg389595
hg199595
hg189595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29n54
Supporting Variantsnssv708558
Samples
Known GenesDVL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544990
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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