A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546144



Internal ID15986867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44433326..44654293hg38UCSC Ensembl
Innerchr1:44898998..45119965hg19UCSC Ensembl
Innerchr1:44671585..44892552hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38220968
hg19220968
hg18220968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173841
Samples1780854105_A
Known GenesMIR5584, RNF220, TMEM53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546144
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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